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
ADAM2	2515	broad.mit.edu	37	8	39682394	39682394	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682394T>A	ENST00000265708.4	-	4	314	c.211A>T	c.(211-213)Aga>Tga	p.R71*	ADAM2_ENST00000521880.1_Nonsense_Mutation_p.R71*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.R71*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.R71*|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	71					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTAAACTCTAAAATTATGG	0.264000													13	34					0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89403596	89403596	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:89403596G>T	ENST00000439576.2	+	13	7246	c.6872G>T	c.(6871-6873)gGg>gTg	p.G2291V	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.G2291V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2291					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGGAGCTGGGACCTGCAAG	0.617000													20	18					1.00905e-13	1.86702e-13	0.001216	1	0
DHX38	9785	broad.mit.edu	37	16	72132917	72132917	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:72132917T>A	ENST00000268482.3	+	6	1365	c.856T>A	c.(856-858)Tcc>Acc	p.S286T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	286					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACTTGGGGTCCACCCCGCG	0.617000													8	23					0	0	0.003080	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960130	10960130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:10960130C>T	ENST00000254488.2	+	8	1178	c.1112C>T	c.(1111-1113)gCa>gTa	p.A371V		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	371					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGAGGTGGCAGAGTCAGGT	0.567000													17	8					0	0	0.001216	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325847	52325847	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:52325847G>T	ENST00000436784.2	+	4	674	c.614G>T	c.(613-615)cGt>cTt	p.R205L	GLYCTK_ENST00000354773.4_Intron|GLYCTK_ENST00000477382.1_Intron|GLYCTK_ENST00000305690.8_Missense_Mutation_p.R205L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Missense_Mutation_p.R121L|GLYCTK_ENST00000471180.1_Missense_Mutation_p.R78L			Q8IVS8	GLCTK_HUMAN	glycerate kinase	205					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTGGCAGCCCGTGGAGCCACC	0.622000											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	41					2.42023e-17	4.70418e-17	0.003271	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044239	90044239	+	RNA	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:90044239G>T	ENST00000462693.1	+	0	190																											ACACAGTGATGGAAACACCTA	0.527000													52	103					1.80625e-27	3.70504e-27	0.003610	1	0
TDRD5	163589	broad.mit.edu	37	1	179620116	179620116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:179620116A>G	ENST00000444136.1	+	12	2165	c.1915A>G	c.(1915-1917)Aca>Gca	p.T639A	TDRD5_ENST00000367614.1_Missense_Mutation_p.T639A|TDRD5_ENST00000294848.8_Missense_Mutation_p.T639A	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	639					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGTGTGACACATCCTCAAA	0.418000													23	67					0	0	0.001882	0	0
EBF3	253738	broad.mit.edu	37	10	131639253	131639253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:131639253G>T	ENST00000368648.3	-	14	1461	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Y472*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCTGGGGACGTAGCCTCGCG	0.547000													41	80					2.40579e-17	4.69434e-17	0.006230	1	0
KEL	3792	broad.mit.edu	37	7	142640671	142640671	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142640671G>T	ENST00000355265.2	-	15	2079	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	535					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTCCCAAGGGGACACCTTCC	0.552000													13	57					2.68362e-12	4.84892e-12	0.001368	1	0
MSGN1	343930	broad.mit.edu	37	2	17998364	17998364	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:17998364G>A	ENST00000281047.3	+	1	602	c.579G>A	c.(577-579)gcG>gcA	p.A193A		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	193					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCAGAGCGCGTGAGCTCCAT	0.542000													24	21					0	0	0.003954	0	0
ZNF530	348327	broad.mit.edu	37	19	58118332	58118332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58118332G>C	ENST00000332854.6	+	3	1659	c.1439G>C	c.(1438-1440)cGa>cCa	p.R480P	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACCTCATTCGACACCAGACA	0.438000													35	33					0	0	0.003755	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121668	46121668	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:46121668C>A	ENST00000374366.3	-	8	1846	c.1381G>T	c.(1381-1383)Ggg>Tgg	p.G461W	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.G535W|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	535							zinc ion binding										GATCTTTTCCCAAGTGAATCA	0.388000													20	72					8.34094e-07	1.33803e-06	0.001216	1	0
ZNF133	7692	broad.mit.edu	37	20	18296949	18296949	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18296949A>G	ENST00000377671.3	+	7	2010	c.1451A>G	c.(1450-1452)cAg>cGg	p.Q484R	ZNF133_ENST00000402618.2_Missense_Mutation_p.Q422R|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q488R|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q485R|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q485R|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q390R	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	485						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ATCAGACACCAGAGGACGCAC	0.582000													21	55					0	0	0.001216	0	0
DCHS2	54798	broad.mit.edu	37	4	155226261	155226261	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155226261A>G	ENST00000357232.3	-	16	4017	c.4018T>C	c.(4018-4020)Ttc>Ctc	p.F1340L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1340	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		CGAAGGGTGAAGACTTCTTGA	0.323000													18	18					0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57829617	57829617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:57829617C>G	ENST00000371030.2	+	5	4853	c.4853C>G	c.(4852-4854)tCt>tGt	p.S1618C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1618						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTCAGGTATCTGGATTAATC	0.488000													21	98					0	0	0.001882	0	0
BRINP3	339479	broad.mit.edu	37	1	190250824	190250824	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:190250824C>A	ENST00000367462.3	-	3	524	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		98						extracellular region		p.G98V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGAGGAGAGCCAAGGAAATT	0.393000													20	23					4.96729e-08	8.27331e-08	0.001216	1	0
ZNF208	7757	broad.mit.edu	37	19	22154889	22154889	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:22154889T>C	ENST00000397126.4	-	4	3095	c.2947A>G	c.(2947-2949)Agt>Ggt	p.S983G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAATGTACTAAAGCCTTTG	0.358000													30	55					0	0	0.007291	0	0
HGF	3082	broad.mit.edu	37	7	81388078	81388078	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:81388078G>T	ENST00000222390.5	-	3	523	c.297C>A	c.(295-297)ttC>ttA	p.F99L	HGF_ENST00000457544.2_Missense_Mutation_p.F99L|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.F99L|HGF_ENST00000423064.2_Missense_Mutation_p.F99L|HGF_ENST00000453411.1_Missense_Mutation_p.F99L|HGF_ENST00000354224.6_Missense_Mutation_p.F99L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	99	PAN.				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			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						TATTGAAGGGGAACCAGAGGC	0.318000													36	59					6.5261e-18	1.28849e-17	0.001951	1	0
MRPS30	10884	broad.mit.edu	37	5	44809461	44809461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44809461C>T	ENST00000507110.1	+	1	435	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	133					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					cgaacccgaacctgaaccTGC	0.697000													4	24					0	0	0.000248	0	0
OR8J1	219477	broad.mit.edu	37	11	56127929	56127929	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56127929T>C	ENST00000303039.3	+	1	239	c.207T>C	c.(205-207)atT>atC	p.I69I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGCTCTCATTAATCTTGGTA	0.453000													27	108					0	0	0.006320	0	0
TBC1D32	221322	broad.mit.edu	37	6	121562642	121562642	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:121562642T>A	ENST00000275159.6	-	19	2213	c.2214A>T	c.(2212-2214)acA>acT	p.T738T	TBC1D32_ENST00000398212.2_Silent_p.T738T					TBC1 domain family, member 32																		CACCTGCTGCTGTTGATGCCA	0.333000													8	28					0	0	0.006214	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960389	64960389	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:64960389A>C	ENST00000399262.2	-	11	5341	c.5123T>G	c.(5122-5124)cTg>cGg	p.L1708R	JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L1526R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1489R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1708					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTTTGCTTCAGCTTCTTGAC	0.373000													3	16					0	0	0.000248	0	0
CTNND2	1501	broad.mit.edu	37	5	11159793	11159793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11159793G>T	ENST00000304623.8	-	12	2243	c.2054C>A	c.(2053-2055)gCg>gAg	p.A685E	CTNND2_ENST00000503622.1_Missense_Mutation_p.A348E|CTNND2_ENST00000458100.2_Missense_Mutation_p.A252E|CTNND2_ENST00000511377.1_Missense_Mutation_p.A594E|CTNND2_ENST00000359640.2_Missense_Mutation_p.A685E|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATAATCACCGCGTTGGTCAG	0.517000													21	173					3.8784e-16	7.4516e-16	0.001882	1	0
DNAH5	1767	broad.mit.edu	37	5	13839501	13839501	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13839501C>A	ENST00000265104.4	-	35	5950	c.5846G>T	c.(5845-5847)tGc>tTc	p.C1949F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1949	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTCAGTGCAGCCTAAAAA	0.423000									Kartagener syndrome				27	140					7.26314e-15	1.37697e-14	0.007291	1	0
PTH2R	5746	broad.mit.edu	37	2	209302279	209302279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:209302279G>T	ENST00000272847.2	+	3	409	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	66						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTTTCCCTGAATGGGATGG	0.343000													23	26					7.87624e-14	1.46545e-13	0.002780	1	0
C17orf66	256957	broad.mit.edu	37	17	34182684	34182684	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:34182684T>A	ENST00000311880.2	-	14	1497	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	C17orf66_ENST00000592980.1_Missense_Mutation_p.Q410L	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	450							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTCACAGCCTGGTGGTTTTC	0.532000													43	43					0	0	0.001951	0	0
RNF150	57484	broad.mit.edu	37	4	141847144	141847144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:141847144G>T	ENST00000306799.3	-	5	1501	c.848C>A	c.(847-849)gCc>gAc	p.A283D	RNF150_ENST00000379512.2_Missense_Mutation_p.A184D|RNF150_ENST00000420921.2_Missense_Mutation_p.A184D|RNF150_ENST00000507500.1_Missense_Mutation_p.A325D|RNF150_ENST00000515673.1_Missense_Mutation_p.A325D	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	325						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GATCCCTAGGGCTTTAAGAAT	0.468000													10	99					2.80697e-09	4.80304e-09	0.000978	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009299	88009299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:88009299C>A	ENST00000276127.4	+	3	1143	c.884C>A	c.(883-885)tCa>tAa	p.S295*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.S295*	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	295						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGACAACATTCATGCAGCTCT	0.299000													16	2					1.99824e-07	3.27371e-07	0.004990	1	0
HRNR	388697	broad.mit.edu	37	1	152188242	152188242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152188242C>A	ENST00000368801.2	-	3	5938	c.5863G>T	c.(5863-5865)Ggg>Tgg	p.G1955W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1955					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACCAGACCCATGTCGGCCA	0.617000													11	1054					0.00621372	0.00912013	0.006214	1	0
OR4N4	283694	broad.mit.edu	37	15	22383249	22383249	+	Missense_Mutation	SNP	G	G	T	rs112081824	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:22383249G>T	ENST00000328795.4	+	1	868	c.777G>T	c.(775-777)atG>atT	p.M259I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATCTACATGTGCCCTTTCA	0.453000													41	208					3.43241e-23	6.95516e-23	0.002222	1	0
SLC25A23	79085	broad.mit.edu	37	19	6442073	6442073	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:6442073G>T	ENST00000301454.4	-	10	1426	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	SLC25A23_ENST00000601760.1_Intron|SLC25A23_ENST00000414491.2_Silent_p.P201P	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	440					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TCATGAAGTTGGGGGCGATCC	0.622000													8	48					0.000274275	0.000411002	0.004482	1	0
ITCH	83737	broad.mit.edu	37	20	33033227	33033227	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:33033227A>T	ENST00000374864.4	+	11	1314	c.1101A>T	c.(1099-1101)caA>caT	p.Q367H	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.Q408H|ITCH_ENST00000535650.1_Missense_Mutation_p.Q257H	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	408	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCAGCTTCAAGGAGCAATGC	0.433000													8	55					0	0	0.000978	0	0
ALPPL2	251	broad.mit.edu	37	2	233272622	233272622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233272622C>A	ENST00000295453.3	+	5	595	c.543C>A	c.(541-543)caC>caA	p.H181Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	181					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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)	Amifostine(DB01143)|Levamisole(DB00848)	CCTACGCCCACACGGTGAACC	0.627000													25	91					9.57634e-11	1.69064e-10	0.003330	1	0
CSMD3	114788	broad.mit.edu	37	8	113694687	113694687	+	Silent	SNP	C	C	T	rs147640061		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:113694687C>T	ENST00000297405.5	-	16	2905	c.2661G>A	c.(2659-2661)ctG>ctA	p.L887L	CSMD3_ENST00000352409.3_Silent_p.L887L|CSMD3_ENST00000343508.3_Silent_p.L847L|CSMD3_ENST00000455883.2_Silent_p.L783L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	887	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTGGAATCAGTCCACTCC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	88					0	0	0.004878	0	0
OBSCN	84033	broad.mit.edu	37	1	228554824	228554824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:228554824G>T	ENST00000570156.2	+	97	22521	c.22447G>T	c.(22447-22449)Ggg>Tgg	p.G7483W	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4160W|OBSCN_ENST00000422127.1_Missense_Mutation_p.G6526W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6526	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTCACGGGGCTGCTGGA	0.652000													4	15					3.59834e-05	5.53293e-05	0.001168	1	0
SEL1L2	80343	broad.mit.edu	37	20	13868451	13868451	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13868451C>T	ENST00000284951.5	-	8	783	c.709G>A	c.(709-711)Gtt>Att	p.V237I	SEL1L2_ENST00000378072.5_Missense_Mutation_p.V237I|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	237						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTAGGGCAACTTCACAATTC	0.308000													24	115					0	0	0.003954	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834402	101834402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:101834402G>C	ENST00000263468.8	+	6	2906	c.2636G>C	c.(2635-2637)tGt>tCt	p.C879S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C680S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	879							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCATCATATTGTTCTTCAGAG	0.418000													24	18					0	0	0.002299	0	0
SNTG1	54212	broad.mit.edu	37	8	51449264	51449264	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:51449264G>T	ENST00000522124.1	+	11	1237	c.576G>T	c.(574-576)ccG>ccT	p.P192P	SNTG1_ENST00000276467.5_Silent_p.P192P|SNTG1_ENST00000518864.1_Silent_p.P192P|SNTG1_ENST00000517473.1_Silent_p.P192P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	192					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGTCGTGGCCGACGTCTCCAG	0.463000													35	131					5.43694e-19	1.0777e-18	0.005524	1	0
GJA8	2703	broad.mit.edu	37	1	147380375	147380375	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:147380375A>T	ENST00000240986.4	+	2	346	c.293A>T	c.(292-294)cAc>cTc	p.H98L	GJA8_ENST00000369235.1_Missense_Mutation_p.H98L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	98					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACGCGGTGCACTACGTCCGC	0.652000													17	57					0	0	0.006122	0	0
FAM71A	149647	broad.mit.edu	37	1	212799980	212799980	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:212799980G>T	ENST00000294829.3	+	1	2192	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	587										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACATCATGGAGACAGTGACCT	0.567000													27	112					3.65163e-15	6.97572e-15	0.006320	1	0
MYLK	4638	broad.mit.edu	37	3	123471326	123471326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:123471326G>T	ENST00000360772.3	-	6	603	c.225C>A	c.(223-225)agC>agA	p.S75R	MYLK_ENST00000360304.3_Missense_Mutation_p.S75R|MYLK_ENST00000346322.5_Missense_Mutation_p.S75R|MYLK_ENST00000359169.1_Missense_Mutation_p.S75R|MYLK_ENST00000475616.1_Missense_Mutation_p.S75R			Q15746	MYLK_HUMAN	myosin light chain kinase	75	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGGCCCCCGCTGGTGATGG	0.552000													24	28					5.45024e-15	1.0372e-14	0.003330	1	0
GALR1	2587	broad.mit.edu	37	18	74962925	74962925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:74962925C>G	ENST00000299727.3	+	1	421	c.421C>G	c.(421-423)Cgg>Ggg	p.R141G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	141					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGTGCACTCGCGGCGCTCCTC	0.652000													16	18					0	0	0.003163	0	0
ZNF883	169834	broad.mit.edu	37	9	115760475	115760475	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:115760475T>C	ENST00000427548.1	-	0	1338							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGACAAGTGTAGCCTTTCCC	0.368000													42	67					0	0	0.001951	0	0
IRS4	8471	broad.mit.edu	37	X	107978532	107978532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:107978532C>T	ENST00000372129.2	-	1	1119	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	348						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGGTGGGCGCCGATGCTGAT	0.592000													76	185					0	0	0.003610	0	0
CA12	771	broad.mit.edu	37	15	63632630	63632630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:63632630C>T	ENST00000178638.3	-	7	1044	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	CA12_ENST00000422263.2_Missense_Mutation_p.V142I|CA12_ENST00000344366.3_Missense_Mutation_p.V202I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	202					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	AATCCCGGGACGAATGCTTCC	0.562000													12	49					0	0	0.001368	0	0
TMED10	10972	broad.mit.edu	37	14	75614419	75614419	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:75614419T>G	ENST00000303575.4	-	3	410	c.359A>C	c.(358-360)cAa>cCa	p.Q120P	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	120	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GATCACGAGTTGGTCAGGTAT	0.493000													55	218					0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167196746	167196746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167196746T>G	ENST00000308378.3	-	15	2319	c.2014A>C	c.(2014-2016)Aag>Cag	p.K672Q	WDR49_ENST00000453925.2_Missense_Mutation_p.K637Q|WDR49_ENST00000476376.1_Missense_Mutation_p.K497Q|WDR49_ENST00000479765.1_3'UTR|SERPINI2_ENST00000476257.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	672										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAATTTCCTTGGGAAACAGG	0.308000													22	46					0	0	0.001882	0	0
ZNF525	170958	broad.mit.edu	37	19	53884814	53884814	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:53884814A>C	ENST00000467003.1	+	4	1075	c.874A>C	c.(874-876)Aag>Cag	p.K292Q	ZNF525_ENST00000355326.3_Missense_Mutation_p.K46Q|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.K328Q					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GAAACCACATAAGTGTAATGA	0.398000													3	59					0	0	0.004672	0	0
TLR4	7099	broad.mit.edu	37	9	120476305	120476305	+	Silent	SNP	C	C	T	rs140661916		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:120476305C>T	ENST00000355622.6	+	3	2000	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.I593I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	633					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATAAGACCATCATTGGTGTGT	0.438000													6	35					0	0	0.001168	0	0
PAX6	5080	broad.mit.edu	37	11	31823216	31823216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:31823216C>A	ENST00000419022.1	-	7	760	c.292G>T	c.(292-294)Gta>Tta	p.V98L	PAX6_ENST00000241001.8_Missense_Mutation_p.V84L|PAX6_ENST00000379115.4_Missense_Mutation_p.V98L|PAX6_ENST00000379107.2_Missense_Mutation_p.V98L|PAX6_ENST00000379123.5_Missense_Mutation_p.V84L|PAX6_ENST00000379129.2_Missense_Mutation_p.V98L|PAX6_ENST00000379132.3_Missense_Mutation_p.V84L|PAX6_ENST00000379111.2_Missense_Mutation_p.V84L	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	84	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATTTTGCTTACAACTTCTGGA	0.502000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				23	59					1.87028e-06	2.96227e-06	0.001882	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874155	48874155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:48874155C>T	ENST00000394754.1	+	8	3178	c.3064C>T	c.(3064-3066)Ccc>Tcc	p.P1022S	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P975S|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P1022S|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P284S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P1022S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.P318S	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		975					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATAGAGGAACCCAGCAACAT	0.413000													7	25					0	0	0.003080	0	0
TECR	9524	broad.mit.edu	37	19	14674476	14674476	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14674476A>T	ENST00000436007.2	+	5	294	c.170A>T	c.(169-171)cAg>cTg	p.Q57L	TECR_ENST00000215567.5_Missense_Mutation_p.Q42L|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596164.1_3'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	42					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GCAGATCCGCAGTGGTACCCC	0.701000													13	41					0	0	0.001368	0	0
TRPV4	59341	broad.mit.edu	37	12	110230484	110230484	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:110230484C>A	ENST00000418703.2	-	10	1891	c.1797G>T	c.(1795-1797)acG>acT	p.T599T	TRPV4_ENST00000544971.1_Silent_p.T492T|TRPV4_ENST00000392719.2_Silent_p.T552T|TRPV4_ENST00000541794.1_Silent_p.T552T|TRPV4_ENST00000536838.1_Silent_p.T565T|TRPV4_ENST00000346520.2_Silent_p.T539T|TRPV4_ENST00000537083.1_Silent_p.T539T|TRPV4_ENST00000261740.2_Silent_p.T599T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	599					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TATAGGTCCCCGTCAGCTTCA	0.577000													22	41					1.87028e-06	2.96227e-06	0.001882	1	0
VCAM1	7412	broad.mit.edu	37	1	101200228	101200228	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:101200228A>G	ENST00000294728.2	+	8	2064	c.1963A>G	c.(1963-1965)Atc>Gtc	p.I655V	VCAM1_ENST00000370115.1_Missense_Mutation_p.I456V|VCAM1_ENST00000370119.4_Missense_Mutation_p.I593V|VCAM1_ENST00000347652.2_Missense_Mutation_p.I563V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	655	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGCCTATACCATCCGAAAGGC	0.398000													23	17					0	0	0.001882	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368633	145368633	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:145368633G>T	ENST00000342960.5	+	84	10646	c.10611G>T	c.(10609-10611)acG>acT	p.T3537T	NBPF10_ENST00000369339.2_Silent_p.T655T|NBPF10_ENST00000369338.1_Silent_p.T653T	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3537										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTACTTTGACGGTGACAAGTC	0.458000													7	526					1.64113e-05	2.54694e-05	0.001523	1	0
GART	2618	broad.mit.edu	37	21	34878381	34878381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878381G>A	ENST00000381831.3	-	19	2746	c.2483C>T	c.(2482-2484)aCt>aTt	p.T828I	GART_ENST00000543717.1_Missense_Mutation_p.T380I|GART_ENST00000381815.4_Missense_Mutation_p.T828I|GART_ENST00000381839.3_Missense_Mutation_p.T828I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	828	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTTCCCGAGTACTGTCTAT	0.423000													46	50					0	0	0.003214	0	0
WDR49	151790	broad.mit.edu	37	3	167250747	167250747	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167250747A>T	ENST00000308378.3	-	8	1222	c.917T>A	c.(916-918)aTt>aAt	p.I306N	WDR49_ENST00000453925.2_Missense_Mutation_p.I370N|WDR49_ENST00000476376.1_Missense_Mutation_p.I131N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	306										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATAGAACAATTTCTCCATC	0.373000													12	54					0	0	0.001855	0	0
DNAH17	8632	broad.mit.edu	37	17	76475623	76475623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:76475623C>A	ENST00000389840.5	-	50	7926	c.7802G>T	c.(7801-7803)cGc>cTc	p.R2601L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2610L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAGACCGAGCGGAAGGCCAG	0.607000													22	139					4.35082e-09	7.40675e-09	0.001523	1	0
DAAM2	23500	broad.mit.edu	37	6	39841095	39841095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39841095C>G	ENST00000538976.1	+	10	1308	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	DAAM2_ENST00000274867.4_Missense_Mutation_p.L376V|DAAM2_ENST00000398904.2_Missense_Mutation_p.L376V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	376	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTACCCCTGCCTGCTCTCTGT	0.562000													3	19					0	0	0.004672	0	0
SPATA6	54558	broad.mit.edu	37	1	48764465	48764465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:48764465C>A	ENST00000371847.3	-	13	1551	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E447*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E391*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	463					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGCTGTTCTCAAAGATGGGT	0.468000													36	85					1.06647e-15	2.04118e-15	0.003755	1	0
RCHY1	25898	broad.mit.edu	37	4	76415818	76415818	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:76415818T>C	ENST00000324439.5	-	8	1028	c.630A>G	c.(628-630)ccA>ccG	p.P210P	RCHY1_ENST00000513257.1_Silent_p.P201P|RCHY1_ENST00000380840.2_Silent_p.P170P|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000512706.1_Silent_p.P188P	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	210					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GATATTCTGATGGCATAGGAG	0.408000													7	62					0	0	0.001984	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69043495	69043495	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:69043495G>T	ENST00000295381.3	+	7	1297		c.e7+1		ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000409202.3_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site|ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000467265.1_Splice_Site	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACATCTGCAGGTGAGAGGCCC	0.488000													13	50					7.93312e-07	1.27875e-06	0.002450	1	0
UNCX	340260	broad.mit.edu	37	7	1273324	1273324	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:1273324G>T	ENST00000316333.8	+	2	554	c.443G>T	c.(442-444)cGa>cTa	p.R148L		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	148					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTCGAGTCCCGAGTTCAGGTA	0.657000													21	41					6.33239e-15	1.20279e-14	0.001523	1	0
ZNF625	90589	broad.mit.edu	37	19	12256756	12256756	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:12256756C>A	ENST00000355738.1	-	4	626	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.G93W|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159W|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GGTTTCCCCCCAGTGTGAGCC	0.428000													27	95					7.38237e-10	1.2763e-09	0.006320	1	0
VEGFC	7424	broad.mit.edu	37	4	177605117	177605117	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177605117C>G	ENST00000280193.2	-	7	1638	c.1223G>C	c.(1222-1224)tGt>tCt	p.C408S	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	408					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGAAGGGACACAACGACACAC	0.418000													43	38					0	0	0.002222	0	0
PTPRF	5792	broad.mit.edu	37	1	44058210	44058210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058210C>T	ENST00000359947.4	+	11	2091	c.1751C>T	c.(1750-1752)gCa>gTa	p.A584V	PTPRF_ENST00000372413.3_Missense_Mutation_p.A584V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A584V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A43V|PTPRF_ENST00000438120.1_Missense_Mutation_p.A584V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	584	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGGCTGCACGCTCGGAT	0.612000													50	32					0	0	0.003610	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196426	102196426	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:102196426A>G	ENST00000306176.1	+	11	1360	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	ZPLD1_ENST00000491959.1_Silent_p.L404L|ZPLD1_ENST00000466937.1_Silent_p.L404L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	404						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCACAAGTTTAGTGTTGAATG	0.473000													38	112					0	0	0.005524	0	0
VWC2L	402117	broad.mit.edu	37	2	215301351	215301351	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:215301351A>T	ENST00000312504.5	+	3	1192		c.e3-1		AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like							extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						ATTTGTTCCTAGCCCTCTCCA	0.428000													33	24					0	0	0.003271	0	0
PCDH15	65217	broad.mit.edu	37	10	55568470	55568470	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:55568470A>T	ENST00000395445.1	-	36	5734	c.5340T>A	c.(5338-5340)ggT>ggA	p.G1780G	PCDH15_ENST00000395442.1_Silent_p.G645G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Silent_p.G714G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Silent_p.G976G	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTTGTAACCTTCAGAGT	0.483000										HNSCC(58;0.16)			6	19					0	0	0.001984	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904578	144904578	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:144904578A>G	ENST00000370490.1	+	1	4890	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q212R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	212						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGAGATTCAGCTGGAGGAA	0.473000													4	137					0	0	0.000248	0	0
SLIT1	6585	broad.mit.edu	37	10	98803255	98803255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:98803255G>T	ENST00000266058.4	-	19	2114	c.1869C>A	c.(1867-1869)aaC>aaA	p.N623K	SLIT1_ENST00000371070.4_Missense_Mutation_p.N623K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	623					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCTGATGCGGTTGTTCCGCA	0.652000													13	21					9.05144e-12	1.61506e-11	0.001855	1	0
CEP290	80184	broad.mit.edu	37	12	88478552	88478552	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:88478552C>G	ENST00000552810.1	-	35	4858	c.4515G>C	c.(4513-4515)ctG>ctC	p.L1505L	CEP290_ENST00000309041.7_Silent_p.L1507L|CEP290_ENST00000397838.3_Silent_p.L565L|CEP290_ENST00000547691.2_Silent_p.L565L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATCGAAGCCTCAGTTCATTGA	0.363000													20	56					0	0	0.007413	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500485	102500485	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:102500485T>G	ENST00000360184.4	+	55	10750	c.10586T>G	c.(10585-10587)tTc>tGc	p.F3529C	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3529					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAACTTGTTCACTACCTGG	0.507000													41	219					0	0	0.007835	0	0
EPAS1	2034	broad.mit.edu	37	2	46607729	46607729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:46607729C>T	ENST00000263734.3	+	12	2428	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	640					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCCAGTGGCCCCCAGATCC	0.617000													52	100					0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77918505	77918505	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77918505T>C	ENST00000302536.2	+	7	1036	c.882_splice	c.e7-1	p.W295_splice		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	295							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTCTTTGCAGTGGTGGCAGGT	0.502000													8	23					0	0	0.004482	0	0
NRDE2	55051	broad.mit.edu	37	14	90769079	90769079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:90769079C>T	ENST00000354366.3	-	6	1628	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E235K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		ATGGCCTCTTCCGTGCCAGGC	0.413000													8	44					0	0	0.004482	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350720	135350720	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:135350720G>T	ENST00000463117.2	+	9	1393	c.1121G>T	c.(1120-1122)cGa>cTa	p.R374L	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R374L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	374					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGCAACCCGAGACACCATT	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				14	67					6.72482e-11	1.18932e-10	0.003163	1	0
PCDH19	57526	broad.mit.edu	37	X	99551562	99551562	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551562C>G	ENST00000373034.4	-	6	4835	c.3160G>C	c.(3160-3162)Gag>Cag	p.E1054Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.E1006Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.E1007Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1054					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGCCTGCCTCCCGGATAACG	0.597000													32	31					0	0	0.002836	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506982	74506982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:74506982G>C	ENST00000354431.4	-	7	1824	c.1633C>G	c.(1633-1635)Cta>Gta	p.L545V	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L545V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	545										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTCTTTTAGGACAGCCTCA	0.328000													16	48					0	0	0.004007	0	0
HRC	3270	broad.mit.edu	37	19	49658346	49658346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:49658346G>T	ENST00000252825.4	-	1	335	c.149C>A	c.(148-150)tCc>tAc	p.S50Y	HRC_ENST00000595625.1_Missense_Mutation_p.S50Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	50					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTCCTCGGAGAGCCCGGC	0.602000													19	93					2.32416e-17	4.54391e-17	0.002299	1	0
PCDHA3	56145	broad.mit.edu	37	5	140180929	140180929	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140180929G>T	ENST00000522353.2	+	1	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A49A|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.647000													35	86					2.42023e-17	4.70418e-17	0.003271	1	0
BLOC1S1	2647	broad.mit.edu	37	12	56113343	56113343	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:56113343A>T	ENST00000547076.1	+	4	693	c.178A>T	c.(178-180)Act>Tct	p.T60S	BLOC1S1_ENST00000549147.1_3'UTR|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.T110S|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.T60S|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.T138S|RP11-644F5.10_ENST00000549424.1_Intron			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	138					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CACCATTGCCACTGCACTGGA	0.602000													29	58					0	0	0.002096	0	0
CLCN3	1182	broad.mit.edu	37	4	170608837	170608837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:170608837G>T	ENST00000513761.1	+	4	906	c.347G>T	c.(346-348)tGg>tTg	p.W116L	CLCN3_ENST00000347613.4_Missense_Mutation_p.W116L|CLCN3_ENST00000360642.3_Missense_Mutation_p.W116L|CLCN3_ENST00000504131.2_Missense_Mutation_p.W99L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	116					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAATCAGCATGGGAAATGACA	0.343000													12	9					0.000308642	0.00046181	0.003163	1	0
LAMA4	3910	broad.mit.edu	37	6	112457395	112457395	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112457395A>C	ENST00000230538.7	-	25	3741	c.3344T>G	c.(3343-3345)tTc>tGc	p.F1115C	LAMA4_ENST00000424408.2_Missense_Mutation_p.F1108C|LAMA4_ENST00000522006.1_Missense_Mutation_p.F1108C|LAMA4_ENST00000389463.4_Missense_Mutation_p.F1108C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1115	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACCGCTGAATCCAAAATC	0.378000													3	45					0	0	0.004672	0	0
GATM	2628	broad.mit.edu	37	15	45660362	45660362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:45660362C>T	ENST00000396659.3	-	4	920	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	GATM_ENST00000558336.1_Missense_Mutation_p.R194Q	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	194					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CCTGTACGCTCGGTACTCAAA	0.493000													11	43					0	0	0.000673	0	0
IFNG	3458	broad.mit.edu	37	12	68551716	68551716	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68551716A>T	ENST00000229135.3	-	3	474	c.343T>A	c.(343-345)Ttc>Atc	p.F115I	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	115					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			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)	AGCTTTTCGAAGTCATCTCGT	0.368000													24	94					0	0	0.004656	0	0
CHL1	10752	broad.mit.edu	37	3	367721	367721	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:367721T>A	ENST00000256509.2	+	4	813	c.171T>A	c.(169-171)tgT>tgA	p.C57*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.C57*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	57	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAATTGAATGTGAAGCTAAAG	0.348000													18	16					0	0	0.007413	0	0
TRIM48	79097	broad.mit.edu	37	11	55035843	55035843	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55035843A>T	ENST00000417545.2	+	4	659	c.573A>T	c.(571-573)ttA>ttT	p.L191F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	175						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGACATATTATACAGGTGAG	0.338000													12	46					0	0	0.001855	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675353	3675353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3675353T>A	ENST00000344754.4	-	11	2900	c.2901A>T	c.(2899-2901)tcA>tcT	p.S967S	SIGLEC1_ENST00000202578.4_Silent_p.S967S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	967	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCGTGGTGGCTGAGCCTGGGG	0.622000													15	60					0	0	0.002450	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621178	13621178	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:13621178A>T	ENST00000361205.4	+	5	912	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.I82F|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.I45F|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.I5F|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.I45F|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.I82F	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		GGTGGTGGTCATCGTCTGCCT	0.617000													41	110					0	0	0.006999	0	0
CUL7	9820	broad.mit.edu	37	6	43013126	43013126	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:43013126C>G	ENST00000535468.1	-	15	3215	c.3129G>C	c.(3127-3129)acG>acC	p.T1043T	CUL7_ENST00000265348.3_Silent_p.T959T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	959					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCGAATGCGCGTATCAATGC	0.597000													38	105					0	0	0.006230	0	0
ANXA11	311	broad.mit.edu	37	10	81928966	81928966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81928966G>C	ENST00000438331.1	-	6	802	c.320C>G	c.(319-321)cCa>cGa	p.P107R	ANXA11_ENST00000422982.3_Missense_Mutation_p.P107R|ANXA11_ENST00000535999.1_Missense_Mutation_p.P107R|ANXA11_ENST00000360615.4_Missense_Mutation_p.P107R|ANXA11_ENST00000265447.4_Missense_Mutation_p.P107R|ANXA11_ENST00000372231.3_Missense_Mutation_p.P107R|ANXA11_ENST00000537102.1_Missense_Mutation_p.P74R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	107					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCCTGGGGGTGGATACATCCC	0.701000													15	20					0	0	0.004007	0	0
FSHR	2492	broad.mit.edu	37	2	49190015	49190015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:49190015T>A	ENST00000406846.2	-	10	2064	c.1945A>T	c.(1945-1947)Atg>Ttg	p.M649L	FSHR_ENST00000541117.1_Missense_Mutation_p.M385L|FSHR_ENST00000346173.3_Missense_Mutation_p.M587L|FSHR_ENST00000304421.4_Missense_Mutation_p.M623L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	649					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGCTTGCATTTCATAGCAG	0.483000									Gonadal Dysgenesis, 46 XX				13	40					0	0	0.001855	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145477757	145477757	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:145477757C>A	ENST00000311450.4	-	2	275	c.218G>T	c.(217-219)aGc>aTc	p.S73I		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	73										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACCGGTGCTCCAGCCCCC	0.512000													26	13					2.79863e-10	4.88906e-10	0.004656	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077157	19077157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:19077157C>A	ENST00000329773.2	-	2	880	c.793G>T	c.(793-795)Gtt>Ttt	p.V265F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	265					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACAGGACAACTGAAACTGGA	0.478000													26	37					7.33532e-06	1.14909e-05	0.003954	1	0
DAPK1	1612	broad.mit.edu	37	9	90321930	90321930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90321930G>A	ENST00000469640.2	+	27	4394	c.4019G>A	c.(4018-4020)cGc>cAc	p.R1340H	DAPK1_ENST00000472284.1_Missense_Mutation_p.R1315H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1249H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1315H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1315H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1315	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACTGAGTCGCCTGCTGGAC	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of				44	66					0	0	0.002522	0	0
OR5B3	441608	broad.mit.edu	37	11	58170806	58170806	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:58170806A>G	ENST00000309403.2	-	1	76	c.77T>C	c.(76-78)tTt>tCt	p.F26S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACGTTATAAAGAGGGGAAC	0.413000													24	68					0	0	0.003954	0	0
BRWD1	54014	broad.mit.edu	37	21	40578121	40578121	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:40578121T>C	ENST00000342449.3	-	37	4355	c.4277A>G	c.(4276-4278)cAa>cGa	p.Q1426R	BRWD1_ENST00000333229.2_Missense_Mutation_p.Q1426R|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q1426R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGAATTTTTGACCAATTTT	0.318000													62	30					0	0	0.003610	0	0
IL26	55801	broad.mit.edu	37	12	68595635	68595635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68595635C>T	ENST00000229134.4	-	5	570	c.506G>A	c.(505-507)aGc>aAc	p.S169N	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	169					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGACTGCTTTCCAATAA	0.294000													19	30					0	0	0.001216	0	0
HSPA4L	22824	broad.mit.edu	37	4	128726265	128726265	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:128726265A>T	ENST00000296464.3	+	9	1434	c.1023A>T	c.(1021-1023)gtA>gtT	p.V341V	HSPA4L_ENST00000439123.2_Silent_p.V372V|HSPA4L_ENST00000508776.1_Silent_p.V341V|HSPA4L_ENST00000505726.1_Silent_p.V315V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	341					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGAAATTGTAGGAGGAGCAA	0.328000													20	15					0	0	0.002299	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482322	233482322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:233482322G>A	ENST00000366624.3	+	2	1201	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	MLK4_ENST00000366623.3_Missense_Mutation_p.E314K	NM_032435.2	NP_115811.2												p.E314K(1)									GATGGCCCCCGAAGTGATCAA	0.473000													5	26					0	0	0.000602	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533100	94533100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:94533100G>T	ENST00000433060.2	+	3	885	c.744G>T	c.(742-744)gaG>gaT	p.E248D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E198D|AMOTL1_ENST00000317837.9_Missense_Mutation_p.E248D	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	248						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATAAGGACGAGGCGCTGAAGG	0.612000													11	47					1.08611e-07	1.78521e-07	0.000978	1	0
REC8	9985	broad.mit.edu	37	14	24641797	24641797	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24641797C>T	ENST00000311457.3	+	2	635	c.36C>T	c.(34-36)acC>acT	p.T12T	REC8_ENST00000559919.1_Silent_p.T12T			O95072	REC8_HUMAN	REC8 meiotic recombination protein	12					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCCACACCGGCTGCTTTG	0.612000													8	44					0	0	0.004482	0	0
TAF4	6874	broad.mit.edu	37	20	60574130	60574130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60574130C>A	ENST00000252996.3	-	12	2821	c.2822G>T	c.(2821-2823)cGg>cTg	p.R941L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	941					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGCTGTGCCCGGACGTCACT	0.483000													108	467					2.21197e-46	4.70102e-46	0.003610	1	0
PREP	5550	broad.mit.edu	37	6	105821390	105821390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105821390C>A	ENST00000369110.3	-	5	641	c.449G>T	c.(448-450)tGg>tTg	p.W150L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	150					proteolysis		serine-type endopeptidase activity	p.W150*(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATTGTCACCCAGTCTGAGCC	0.473000													15	47					0.00244969	0.00361673	0.002450	1	0
RHOD	29984	broad.mit.edu	37	11	66834226	66834226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:66834226C>T	ENST00000308831.2	+	3	323	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80C	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	80					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGACTATGACCGCCTGCGGCC	0.592000													31	115					0	0	0.002445	0	0
CDK9	1025	broad.mit.edu	37	9	130550933	130550933	+	Missense_Mutation	SNP	G	G	A	rs11554104		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:130550933G>A	ENST00000373265.2	+	6	1066	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	CDK9_ENST00000373264.4_Missense_Mutation_p.A239T			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	239					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GCACCAACTCGCCCTCATCAG	0.672000													9	24					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716919	142716919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:142716919C>T	ENST00000381779.4	-	2	2231	c.2006G>A	c.(2005-2007)aGg>aAg	p.R669K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R669K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R669K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	669						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATGCTTCCTTAGCTGCAG	0.473000													40	138					0	0	0.001951	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898472	47898472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:47898472C>G	ENST00000289672.2	-	27	4211	c.4161G>C	c.(4159-4161)atG>atC	p.M1387I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1387	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAACCGCACTCATAAAGCCTA	0.498000													9	26					0	0	0.004482	0	0
GALNT8	26290	broad.mit.edu	37	12	4835951	4835951	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:4835951C>T	ENST00000252318.2	+	2	802	c.465C>T	c.(463-465)aaC>aaT	p.N155N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	155						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACCTCAGCAACCAGCTGCCTC	0.567000													37	76					0	0	0.007835	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217975	36217975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:36217975T>C	ENST00000258840.6	-	10	1457	c.1067A>G	c.(1066-1068)aAa>aGa	p.K356R	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.K356R|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.K356R|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.K356R			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	356					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTGTCTGTTTTATCAGCATT	0.353000													16	84					0	0	0.006122	0	0
KIF21A	55605	broad.mit.edu	37	12	39716684	39716684	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39716684C>A	ENST00000395670.3	-	26	3876	c.3456_splice	c.e26-1	p.A1153_splice	KIF21A_ENST00000361961.3_Splice_Site_p.A1140_splice|KIF21A_ENST00000361418.5_Splice_Site_p.A1153_splice|KIF21A_ENST00000544797.2_Splice_Site_p.A1133_splice|KIF21A_ENST00000541463.2_Splice_Site_p.A1117_splice			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1153					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCCTTCGGGCCTAGTCAAAG	0.433000													23	73					3.62473e-10	6.31019e-10	0.001882	1	0
LRP1	4035	broad.mit.edu	37	12	57578167	57578167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57578167G>A	ENST00000243077.3	+	38	6584	c.6118G>A	c.(6118-6120)Ggc>Agc	p.G2040S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2040					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCTAGATGGCACGGAGCG	0.597000													27	49					0	0	0.005443	0	0
RIMS4	140730	broad.mit.edu	37	20	43399968	43399968	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:43399968C>G	ENST00000372851.3	-	2	250	c.184G>C	c.(184-186)Gcc>Ccc	p.A62P	RIMS4_ENST00000541604.2_Missense_Mutation_p.A63P	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	62					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCGTGGCTGGCCTGGCGCAGT	0.627000													15	89					0	0	0.002450	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147483	62147483	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:62147483G>T	ENST00000416284.3	-	4	1888	c.304C>A	c.(304-306)Cta>Ata	p.L102I	FAM19A2_ENST00000551619.1_Missense_Mutation_p.L102I|FAM19A2_ENST00000550003.1_Missense_Mutation_p.L5I|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	102						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCTCCCTCTAGACATGGCTGC	0.403000													37	79					6.03168e-27	1.23471e-26	0.004878	1	0
TRHDE	29953	broad.mit.edu	37	12	72771839	72771839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72771839C>G	ENST00000261180.4	+	3	1214	c.1118C>G	c.(1117-1119)aCa>aGa	p.T373R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	373					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTCCATATAACAAAGAGATTA	0.333000													21	88					0	0	0.001882	0	0
C14orf39	317761	broad.mit.edu	37	14	60903645	60903645	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:60903645T>C	ENST00000321731.3	-	18	1841	c.1682A>G	c.(1681-1683)cAg>cGg	p.Q561R		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	561										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTTGACCCTGTCCAAATGA	0.323000													65	195					0	0	0.003610	0	0
MEGF10	84466	broad.mit.edu	37	5	126738373	126738373	+	Splice_Site	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:126738373C>T	ENST00000274473.6	+	9	1183	c.917_splice	c.e9+1	p.R306_splice	MEGF10_ENST00000503335.2_Splice_Site_p.R306_splice|MEGF10_ENST00000508365.1_Splice_Site_p.R306_splice|MEGF10_ENST00000418761.2_Splice_Site_p.R306_splice	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	306	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CACAGGGGAACGGTAAGGGAT	0.478000													33	26					0	0	0.003271	0	0
C12orf66	144577	broad.mit.edu	37	12	64587735	64587735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:64587735C>T	ENST00000311915.8	-	3	1252	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	C12orf66_ENST00000544871.1_Missense_Mutation_p.E356K|C12orf66_ENST00000398055.3_Missense_Mutation_p.E409K			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	409										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TTCTTTGACTCAAAAATGATG	0.443000													55	112					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103444450	103444450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:103444450C>A	ENST00000358392.2	-	34	3028	c.2711G>T	c.(2710-2712)gGt>gTt	p.G904V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G776V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G853V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G892V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	892	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCTTGCACCTCTTGAACC	0.403000													38	25					8.69298e-16	1.66699e-15	0.006999	1	0
DLC1	10395	broad.mit.edu	37	8	13356615	13356615	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:13356615C>T	ENST00000276297.4	-	2	1375	c.966G>A	c.(964-966)aaG>aaA	p.K322K	DLC1_ENST00000316609.5_Silent_p.K322K|DLC1_ENST00000511869.1_Silent_p.K322K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	322					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGGGTCTCCTTTAATTGTA	0.428000													16	44					0	0	0.003163	0	0
UNC79	57578	broad.mit.edu	37	14	94044388	94044388	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94044388G>T	ENST00000553484.1	+	18	2566	c.2412G>T	c.(2410-2412)atG>atT	p.M804I	UNC79_ENST00000555664.1_Missense_Mutation_p.M804I|UNC79_ENST00000256339.4_Missense_Mutation_p.M627I|UNC79_ENST00000393151.2_Missense_Mutation_p.M804I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	804						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCATCCTCATGTTTGATCTTC	0.403000													6	68					0.00198382	0.00293324	0.001984	1	0
SLK	9748	broad.mit.edu	37	10	105762811	105762811	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:105762811G>T	ENST00000369755.3	+	9	2420	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	SLK_ENST00000335753.4_Missense_Mutation_p.E625D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	625	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAGTTCAGAGAACATAATGG	0.388000													10	24					3.86212e-05	5.91129e-05	0.000673	1	0
GRIA4	2893	broad.mit.edu	37	11	105774688	105774688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105774688T>C	ENST00000393127.2	+	8	1480	c.1034T>C	c.(1033-1035)aTg>aCg	p.M345T	GRIA4_ENST00000282499.5_Missense_Mutation_p.M345T|GRIA4_ENST00000530497.1_Missense_Mutation_p.M345T|GRIA4_ENST00000525187.1_Missense_Mutation_p.M345T|GRIA4_ENST00000393125.2_Missense_Mutation_p.M345T|GRIA4_ENST00000428631.2_Missense_Mutation_p.M345T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	345					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAATTGACATGGAGAGGACA	0.398000													18	76					0	0	0.007413	0	0
NUDT7	283927	broad.mit.edu	37	16	77759434	77759434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77759434G>T	ENST00000268533.5	+	2	211	c.142G>T	c.(142-144)Gct>Tct	p.A48S	NUDT7_ENST00000437314.3_Missense_Mutation_p.A48S|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000568787.1_Missense_Mutation_p.A48S|NUDT7_ENST00000564085.1_Missense_Mutation_p.A48S	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	48	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GCCATTGGTGGCTAAAGAAGG	0.428000													12	50					0.00136819	0.00202898	0.001368	1	0
TMC5	79838	broad.mit.edu	37	16	19488760	19488760	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:19488760A>T	ENST00000396229.2	+	13	2839		c.e13-1		TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000564959.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTCTGTTTAGAAACATCTT	0.398000													15	48					0	0	0.002450	0	0
STX4	6810	broad.mit.edu	37	16	31049253	31049253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:31049253G>C	ENST00000394998.1	+	7	722	c.379G>C	c.(379-381)Gtc>Ctc	p.V127L	STX4_ENST00000313843.3_Missense_Mutation_p.V129L|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	129					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTAGCATGGGGTCCTGTCCCA	0.537000													21	83					0	0	0.001216	0	0
CA3	761	broad.mit.edu	37	8	86351950	86351950	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86351950A>T	ENST00000285381.2	+	2	127	c.44A>T	c.(43-45)cAc>cTc	p.H15L		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	15					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCCTGACCACTGGCATGAA	0.473000													9	25					0	0	0.004482	0	0
FMO3	2328	broad.mit.edu	37	1	171077253	171077253	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171077253G>T	ENST00000367755.4	+	5	629	c.518G>T	c.(517-519)aGc>aTc	p.S173I	FMO3_ENST00000538429.1_Missense_Mutation_p.S110I|FMO3_ENST00000542847.1_Missense_Mutation_p.S153I|FMO3_ENST00000392085.2_Missense_Mutation_p.S173I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	173					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTTCCACAGCAGGGACTAT	0.438000													29	57					3.73148e-12	6.70594e-12	0.007291	1	0
LOC101927905	101927905	broad.mit.edu	37	12	8388208	8388208	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:8388208G>A	ENST00000304751.9	+	0	198				FAM86FP_ENST00000427893.2_RNA																							TGTTAGTGAAGGCTGCTGGGT	0.622000													12	45					0	0	0.002450	0	0
ACO2	50	broad.mit.edu	37	22	41922444	41922444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:41922444C>G	ENST00000396512.3	+	15	2032	c.2015C>G	c.(2014-2016)gCc>gGc	p.A672G	POLR3H_ENST00000355209.4_3'UTR|POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000216254.4_Missense_Mutation_p.A647G			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	647					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTGACACTGCCCGCTACTAC	0.577000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	100					0	0	0.001951	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485323	110485323	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:110485323G>C	ENST00000260283.4	-	7	876	c.592C>G	c.(592-594)Ctc>Gtc	p.L198V	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L172V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L175V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L172V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	198	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGATTTTGAGGGGAATGCTC	0.413000													10	35					0	0	0.000673	0	0
BRAF	673	broad.mit.edu	37	7	140482832	140482832	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:140482832T>G	ENST00000288602.6	-	10	1363	c.1303A>C	c.(1303-1305)Agg>Cgg	p.R435R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	435					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTCGATTCCTGTCTTCTGAG	0.388000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	30					0	0	0.004007	0	0
EHMT2	10919	broad.mit.edu	37	6	31854582	31854582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31854582C>T	ENST00000395728.3	-	16	2381	c.2382G>A	c.(2380-2382)atG>atA	p.M794I	EHMT2_ENST00000375528.4_Missense_Mutation_p.M760I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.M703I|EHMT2_ENST00000375537.4_Missense_Mutation_p.M737I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	737					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGCTGCACCATGTAACGGG	0.622000													35	158					0	0	0.004878	0	0
SEPT3	55964	broad.mit.edu	37	22	42383671	42383671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:42383671C>T	ENST00000328414.8	+	3	386	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SEPT3_ENST00000406029.1_Silent_p.F89F|SEPT3_ENST00000396426.3_Silent_p.F153F|SEPT3_ENST00000396425.3_Silent_p.F153F|SEPT3_ENST00000291236.11_Silent_p.F89F			Q9UH03	SEPT3_HUMAN	septin 3	0					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ACGAGAAGTTCCTGAAGGAGG	0.507000													18	44					0	0	0.006122	0	0
MAD1L1	8379	broad.mit.edu	37	7	1937910	1937910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:1937910C>T	ENST00000406869.1	-	18	2481	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	MAD1L1_ENST00000265854.7_Missense_Mutation_p.D642N|MAD1L1_ENST00000402746.1_Missense_Mutation_p.D550N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D642N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	642					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTGGTGATGTCGATCTGGTAG	0.612000													18	38					0	0	0.006122	0	0
SCN10A	6336	broad.mit.edu	37	3	38793848	38793848	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:38793848C>G	ENST00000449082.2	-	11	1616	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	539					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCCCCACCCAGCAGCAGAG	0.607000													24	20					0	0	0.002780	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050778	81050778	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81050778G>C	ENST00000334512.5	+	10	1175	c.603G>C	c.(601-603)gcG>gcC	p.A201A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	201					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCATGGCGTCGGGCATGA	0.617000													12	110					0	0	0.002450	0	0
LRRN4	164312	broad.mit.edu	37	20	6021815	6021815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:6021815G>T	ENST00000378858.4	-	5	2300	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	692						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGAGCAACAGGCCGCTGGCGG	0.697000													4	17					2.56e-06	4.04828e-06	0.000248	1	0
HEATR5B	54497	broad.mit.edu	37	2	37235842	37235842	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:37235842T>C	ENST00000233099.5	-	28	4529	c.4434A>G	c.(4432-4434)ccA>ccG	p.P1478P	HEATR5B_ENST00000354531.2_Silent_p.P1478P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1478							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACTGAGTGTTGGTAGTTCAG	0.413000													12	79					0	0	0.000978	0	0
APOL6	80830	broad.mit.edu	37	22	36054987	36054987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:36054987G>A	ENST00000409652.3	+	3	652	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	126					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CACCAGCATCGTGAGTGGTAC	0.577000													11	51					0	0	0.001368	0	0
ZFP28	140612	broad.mit.edu	37	19	57066324	57066324	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:57066324A>G	ENST00000301318.3	+	8	2241	c.2170A>G	c.(2170-2172)Act>Gct	p.T724A	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGACTGCACACTGGCCAAAG	0.413000													19	59					0	0	0.007413	0	0
PNPLA6	10908	broad.mit.edu	37	19	7626150	7626150	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:7626150A>T	ENST00000221249.6	+	34	4287	c.3856A>T	c.(3856-3858)Agg>Tgg	p.R1286W	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1259W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1286W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1334W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1324W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1325					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGACTGCTCGAGGGATGAAGG	0.657000													5	21					0	0	0.001984	0	0
EXOC6B	23233	broad.mit.edu	37	2	72722617	72722617	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:72722617T>A	ENST00000272427.6	-	15	1625	c.1495A>T	c.(1495-1497)Aac>Tac	p.N499Y	EXOC6B_ENST00000410104.1_Missense_Mutation_p.N499Y	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	499					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTAATTTGGTTGTAAACTTTT	0.313000													3	19					0	0	0.000248	0	0
LSR	51599	broad.mit.edu	37	19	35757268	35757268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:35757268C>T	ENST00000602122.1	+	5	1359	c.872C>T	c.(871-873)gCc>gTc	p.A291V	LSR_ENST00000354900.3_Missense_Mutation_p.A291V|LSR_ENST00000427250.1_Missense_Mutation_p.A154V|LSR_ENST00000360798.3_Missense_Mutation_p.A242V|LSR_ENST00000347609.4_Missense_Mutation_p.A273V|LSR_ENST00000361790.3_Missense_Mutation_p.A310V			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	310	Cys-rich.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	p.A310V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAGTGTATGCCGCCGGCAAA	0.617000													5	174					0	0	0.000602	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589218	140589218	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140589218T>G	ENST00000239450.2	+	1	928	c.739T>G	c.(739-741)Tat>Gat	p.Y247D	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		247	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTTTATGAGGTGAA	0.502000													97	56					0	0	0.003610	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089499	43089499	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:43089499T>C	ENST00000359467.3	-	5	1013	c.899A>G	c.(898-900)cAc>cGc	p.H300R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAATCATAGTGTTTCACAGG	0.383000													23	57					0	0	0.002299	0	0
TREML2	79865	broad.mit.edu	37	6	41165984	41165984	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:41165984T>C	ENST00000483722.1	-	2	424	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	80	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCATCGTCCTGCAGCAAGTA	0.582000													22	108					0	0	0.002299	0	0
C10orf2	56652	broad.mit.edu	37	10	102749399	102749399	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102749399A>T	ENST00000370228.1	+	2	1428		c.e2-1		C10orf2_ENST00000473656.1_Splice_Site|C10orf2_ENST00000311916.2_Splice_Site	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2						cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCCCACTGCAGGGCCAACAG	0.537000													18	62					0	0	0.006122	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253851	36253851	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:36253851G>T	ENST00000296604.3	-	12	1550	c.1065C>A	c.(1063-1065)agC>agA	p.S355R	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S380R	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	355	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCCAGAGTTTGCTGTTGAGGA	0.388000													14	120					8.60227e-14	1.59757e-13	0.004007	1	0
SCGN	10590	broad.mit.edu	37	6	25670229	25670229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:25670229C>A	ENST00000377961.2	+	6	564	c.396C>A	c.(394-396)aaC>aaA	p.N132K	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	132	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCACAGAACTTCCTCCGAG	0.398000													42	170					1.41504e-22	2.84428e-22	0.002852	1	0
BRCA1	672	broad.mit.edu	37	17	41226510	41226510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:41226510C>T	ENST00000309486.4	-	13	4652	c.3625G>A	c.(3625-3627)Gat>Aat	p.D1209N	BRCA1_ENST00000491747.2_Missense_Mutation_p.D401N|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D1458N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.D363N|BRCA1_ENST00000357654.3_Missense_Mutation_p.D1505N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.D1526N|BRCA1_ENST00000468300.1_Missense_Mutation_p.D401N|BRCA1_ENST00000591534.1_5'UTR|BRCA1_ENST00000351666.3_Missense_Mutation_p.D322N	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1505					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACCTATCATCTAATGATGGG	0.443000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			11	38					0	0	0.000673	0	0
CCR7	1236	broad.mit.edu	37	17	38711638	38711638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:38711638G>A	ENST00000246657.2	-	3	555	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	CCR7_ENST00000579344.1_Missense_Mutation_p.H159Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	165					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGGTGGCGGTGAGCTGAGACA	0.552000													5	31					0	0	0.000602	0	0
PTPN13	5783	broad.mit.edu	37	4	87728986	87728986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:87728986C>G	ENST00000436978.1	+	45	7514	c.7034C>G	c.(7033-7035)gCt>gGt	p.A2345G	PTPN13_ENST00000427191.2_Missense_Mutation_p.A2321G|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2149G|PTPN13_ENST00000411767.2_Missense_Mutation_p.A2340G|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2345G	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2340	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCGACTGGCTCTTGTGAGA	0.448000													24	90					0	0	0.005443	0	0
ARRDC4	91947	broad.mit.edu	37	15	98513117	98513117	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:98513117A>G	ENST00000268042.6	+	6	1051	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	ARRDC4_ENST00000538249.1_Missense_Mutation_p.Y209C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	296					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TATTAGGTATACATTCACATT	0.353000													10	37					0	0	0.006214	0	0
USP6	9098	broad.mit.edu	37	17	5050447	5050447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:5050447G>A	ENST00000574788.1	+	29	4619	c.2389G>A	c.(2389-2391)Gtc>Atc	p.V797I	USP6_ENST00000304328.5_Missense_Mutation_p.V480I|USP6_ENST00000250066.6_Missense_Mutation_p.V797I|USP6_ENST00000332776.4_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	797					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			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						TGAAATTCCTGTCCCTTCATC	0.398000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								17	39					0	0	0.004007	0	0
ZNF184	7738	broad.mit.edu	37	6	27419371	27419371	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:27419371T>A	ENST00000211936.6	-	6	2251	c.1967A>T	c.(1966-1968)cAt>cTt	p.H656L	ZNF184_ENST00000377419.1_Missense_Mutation_p.H656L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGAGTTAGATGGGAGCTCTG	0.423000													18	79					0	0	0.004990	0	0
DIAPH2	1730	broad.mit.edu	37	X	96396710	96396710	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:96396710T>C	ENST00000324765.8	+	22	2983	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DIAPH2_ENST00000355827.4_Missense_Mutation_p.F879S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.F879S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.F879S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.F875S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	879	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTTTGCATTTTATTGCCGAC	0.308000													12	21					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13807803	13807803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13807803G>T	ENST00000265104.4	-	47	7888	c.7784C>A	c.(7783-7785)gCc>gAc	p.A2595D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2595	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACTGTTTTGGCTGTTCCTTG	0.358000									Kartagener syndrome				7	18					5.18039e-06	8.14062e-06	0.003080	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299776	125299776	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:125299776C>T	ENST00000538699.1	-	2	212	c.132G>A	c.(130-132)cgG>cgA	p.R44R	DCAF12L2_ENST00000360028.2_Silent_p.R44R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	44										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGTCGCCGGCCGCTTCTGCT	0.731000													44	3					0	0	0.002852	0	0
ZIC4	84107	broad.mit.edu	37	3	147114155	147114155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:147114155G>A	ENST00000383075.3	-	3	684	c.172C>T	c.(172-174)Cct>Tct	p.P58S	ZIC4_ENST00000484399.1_Missense_Mutation_p.P58S|ZIC4_ENST00000525172.2_Missense_Mutation_p.P108S|ZIC4_ENST00000425731.3_Missense_Mutation_p.P96S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.P58S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	58						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCATTCAAAGGACGGCTGGGG	0.726000													12	39					0	0	0.001368	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346550	70346550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:70346550C>A	ENST00000305107.6	-	6	1435	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.W327C	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	463					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAATTCAATCCAGAAGACTG	0.448000													74	131					6.72169e-28	1.3816e-27	0.003610	1	0
CLMN	79789	broad.mit.edu	37	14	95670290	95670290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:95670290C>G	ENST00000298912.4	-	9	1509	c.1396G>C	c.(1396-1398)Gtt>Ctt	p.V466L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	466						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCAACCTCAACTGCCAAGACA	0.488000													13	74					0	0	0.002450	0	0
ATP10A	57194	broad.mit.edu	37	15	26026179	26026179	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:26026179C>G	ENST00000356865.6	-	2	752	c.641G>C	c.(640-642)gGc>gCc	p.G214A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	214					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCCGAGAAGCCGCGGACCAC	0.612000													13	68					0	0	0.002450	0	0
ZNF462	58499	broad.mit.edu	37	9	109691031	109691031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109691031C>T	ENST00000277225.5	+	3	5127	c.4838C>T	c.(4837-4839)cCg>cTg	p.P1613L	ZNF462_ENST00000441147.2_Missense_Mutation_p.P458L|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1613L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1613					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1613L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTCGCCCCCGAAGCTGCCA	0.537000													24	123					0	0	0.003330	0	0
NOS1	4842	broad.mit.edu	37	12	117662875	117662875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:117662875T>C	ENST00000317775.6	-	25	4457	c.3772A>G	c.(3772-3774)Att>Gtt	p.I1258V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.I1292V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1258					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGGGGCAATGCCGGTGCCT	0.602000													86	133					0	0	0.003610	0	0
WDR24	84219	broad.mit.edu	37	16	737322	737322	+	Missense_Mutation	SNP	C	C	T	rs145838196	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:737322C>T	ENST00000293883.4	-	3	1513	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	WDR24_ENST00000248142.6_Missense_Mutation_p.A382T	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	338										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCACCGAGGCGATGGTCTGC	0.637000													21	59					0	0	0.002299	0	0
HOMER3	9454	broad.mit.edu	37	19	19042356	19042356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:19042356G>T	ENST00000539827.1	-	7	1421	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000594439.1_Missense_Mutation_p.L221M|HOMER3_ENST00000433218.2_Missense_Mutation_p.L257M|HOMER3_ENST00000594794.1_Missense_Mutation_p.L48M|HOMER3_ENST00000392351.3_Missense_Mutation_p.L257M|HOMER3_ENST00000355887.6_Missense_Mutation_p.L257M|HOMER3_ENST00000221222.11_Missense_Mutation_p.L257M|HOMER3_ENST00000542541.2_Missense_Mutation_p.L257M			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	257					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			AGCTGTTCCAGCGACTGGCCC	0.637000													43	91					7.53189e-24	1.5324e-23	0.007835	1	0
CTNND2	1501	broad.mit.edu	37	5	11159792	11159792	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11159792C>T	ENST00000304623.8	-	12	2244	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CTNND2_ENST00000503622.1_Silent_p.A348A|CTNND2_ENST00000458100.2_Silent_p.A252A|CTNND2_ENST00000511377.1_Silent_p.A594A|CTNND2_ENST00000359640.2_Silent_p.A685A|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATAATCACCGCGTTGGTCA	0.522000													21	169					0	0	0.001882	0	0
VN1R2	317701	broad.mit.edu	37	19	53761833	53761833	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:53761833G>C	ENST00000341702.3	+	1	289	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	69					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctttgtcttgtgtctttatt	0.512000													4	7					0	0	0.000248	0	0
LAT2	7462	broad.mit.edu	37	7	73638999	73638999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:73638999C>T	ENST00000460943.1	+	13	1548	c.659C>T	c.(658-660)cCg>cTg	p.P220L	LAT2_ENST00000344995.5_Missense_Mutation_p.P220L|LAT2_ENST00000398475.1_Missense_Mutation_p.P220L|LAT2_ENST00000275635.7_Missense_Mutation_p.P220L	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	220					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCCCCTGGCCCGGTGGGAAGC	0.612000													6	6					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179419418	179419418	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179419418G>T	ENST00000589042.1	-	332	88880	c.88656C>A	c.(88654-88656)acC>acA	p.T29552T	TTN_ENST00000342992.6_Silent_p.T26984T|TTN_ENST00000460472.2_Silent_p.T20487T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T27911T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T20679T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T20612T|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27911	Fibronectin type-III 115.						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)			GCCAGAGAAGGGTGATCTTCT	0.473000													61	82					3.84483e-29	7.98481e-29	0.003610	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	95					0	0	0.000602	0	0
RBFOX2	23543	broad.mit.edu	37	22	36140242	36140242	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:36140242T>G	ENST00000405409.2	-	12	1472	c.1104A>C	c.(1102-1104)tgA>tgC	p.*368C	RBFOX2_ENST00000397303.2_3'UTR|RBFOX2_ENST00000449924.2_3'UTR|RBFOX2_ENST00000359369.4_Nonstop_Mutation_p.*371C|RBFOX2_ENST00000416721.2_3'UTR|RBFOX2_ENST00000414461.2_Nonstop_Mutation_p.*371C|RBFOX2_ENST00000262829.7_3'UTR	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	p.*368C(1)		endometrium(4)|large_intestine(7)|lung(7)	18						TGCAGGGGTCTCACGTCACTT	0.438000													4	42					0	0	0.000248	0	0
AMOT	154796	broad.mit.edu	37	X	112054479	112054479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:112054479C>A	ENST00000371959.3	-	3	1534	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	AMOT_ENST00000524145.1_Missense_Mutation_p.R512I|AMOT_ENST00000371962.1_Missense_Mutation_p.R280I|AMOT_ENST00000371958.1_Missense_Mutation_p.R280I|AMOT_ENST00000304758.1_Missense_Mutation_p.R103I	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	512					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCCTCACCTCTCAGATCCCT	0.512000													86	77					6.11831e-30	1.27327e-29	0.003610	1	0
DUSP4	1846	broad.mit.edu	37	8	29207392	29207392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:29207392G>A	ENST00000240100.2	-	1	793	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	135	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GGTGCGCTCGGCGTTGCGGCG	0.687000													13	16					0	0	0.006122	0	0
OR56A4	120793	broad.mit.edu	37	11	6023944	6023944	+	Missense_Mutation	SNP	C	C	A	rs144089765		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:6023944C>A	ENST00000330728.4	-	1	480	c.435G>T	c.(433-435)agG>agT	p.R145S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGATCGACCTGAGGTCAA	0.547000													27	61					2.79863e-10	4.88906e-10	0.004656	1	0
RYR2	6262	broad.mit.edu	37	1	237796940	237796940	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:237796940A>T	ENST00000366574.2	+	43	6935	c.6618A>T	c.(6616-6618)atA>atT	p.I2206I	RYR2_ENST00000360064.6_Silent_p.I2204I|RYR2_ENST00000542537.1_Silent_p.I2190I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2206	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTCGTATAAGTAGGCAGA	0.373000													49	125					0	0	0.003610	0	0
C4A	720	broad.mit.edu	37	6	31962428	31962428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31962428C>T	ENST00000428956.2	+	21	2830	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	C4A_ENST00000498271.1_Nonsense_Mutation_p.R916*	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGTGGTGGCTCGAGGGTCCTT	0.637000													23	71					0	0	0.002096	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687888	68687888	+	Missense_Mutation	SNP	G	G	T	rs150432500		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:68687888G>T	ENST00000361320.4	+	2	1792	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	405						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGAGCCCGGCCCAGAGACC	0.617000													23	56					3.5997e-14	6.71005e-14	0.002299	1	0
CREB5	9586	broad.mit.edu	37	7	28844011	28844011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:28844011C>T	ENST00000357727.2	+	8	1288	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	CREB5_ENST00000409603.1_Missense_Mutation_p.H267Y|CREB5_ENST00000396298.2_Missense_Mutation_p.H161Y|CREB5_ENST00000396299.2_Missense_Mutation_p.H267Y|CREB5_ENST00000396300.2_Missense_Mutation_p.H293Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	300					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						cccagcacaccatcctcaccc	0.602000													22	22					0	0	0.001523	0	0
UBD	10537	broad.mit.edu	37	6	29524075	29524075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:29524075T>C	ENST00000377050.4	-	2	303	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	27	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CACGCTGTCATATGGGTTGGC	0.488000													20	50					0	0	0.001882	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899257	56899257	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899257A>T	ENST00000438926.2	+	1	139	c.110A>T	c.(109-111)tAt>tTt	p.Y37F	SLC12A3_ENST00000563236.1_Missense_Mutation_p.Y37F|SLC12A3_ENST00000566786.1_Missense_Mutation_p.Y37F|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Y37F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	37					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGCTGCCTATGACAGCAGC	0.597000													38	164					0	0	0.007835	0	0
LUZP2	338645	broad.mit.edu	37	11	25004816	25004816	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:25004816C>A	ENST00000533227.1	+	9	771	c.484C>A	c.(484-486)Cca>Aca	p.P162T	LUZP2_ENST00000336930.6_Missense_Mutation_p.P248T	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	248						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTAAGCTTCCAGATGCAGC	0.428000													15	44					1.99824e-07	3.27371e-07	0.004990	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984215	140984215	+	Splice_Site	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:140984215A>G	ENST00000544766.1	+	4	382		c.e4-1		MAGEC3_ENST00000443323.2_Splice_Site|MAGEC3_ENST00000409007.1_Intron|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_Splice_Site|MAGEC3_ENST00000536088.1_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTCCTACAGGTTCTGAGG	0.572000													13	12					0	0	0.001855	0	0
KIAA0895	23366	broad.mit.edu	37	7	36397151	36397151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36397151T>C	ENST00000317020.6	-	2	374	c.74A>G	c.(73-75)aAt>aGt	p.N25S	KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.N63S|KIAA0895_ENST00000415803.2_Missense_Mutation_p.N63S|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.N76S|KIAA0895_ENST00000440378.1_Missense_Mutation_p.N25S	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	76	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTTCTGCATTTAGAATAGA	0.343000													9	23					0	0	0.004482	0	0
CXCR1	3577	broad.mit.edu	37	2	219029140	219029140	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:219029140G>T	ENST00000295683.2	-	2	915	c.795C>A	c.(793-795)gaC>gaA	p.D265E		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	265					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TCATGAGGGTGTCTGCCAGCA	0.592000													31	98					1.75199e-13	3.23568e-13	0.007291	1	0
APBA1	320	broad.mit.edu	37	9	72073080	72073080	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:72073080T>C	ENST00000265381.4	-	6	1729	c.1507A>G	c.(1507-1509)Agg>Ggg	p.R503G	APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	503	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTTCTTCCTGCTTTTGGCT	0.368000													8	54					0	0	0.000673	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740206	33740206	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:33740206G>C	ENST00000403687.3	+	3	743	c.3G>C	c.(1-3)atG>atC	p.M1I	RASGRP3_ENST00000407811.1_Start_Codon_SNP_p.M1I|RASGRP3_ENST00000402538.3_Start_Codon_SNP_p.M1I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	1					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAATAACCATGGGATCAAGTG	0.428000													20	89					0	0	0.001882	0	0
POLR1B	84172	broad.mit.edu	37	2	113316883	113316883	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:113316883A>G	ENST00000263331.5	+	9	1924	c.1344A>G	c.(1342-1344)ctA>ctG	p.L448L	POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000537335.1_Silent_p.L237L|POLR1B_ENST00000541869.1_Silent_p.L486L|POLR1B_ENST00000417433.2_Silent_p.L392L|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	448					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGGCCTCCTACAAGATTCTG	0.433000													62	215					0	0	0.003610	0	0
S100A7	6278	broad.mit.edu	37	1	153430420	153430420	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:153430420G>T	ENST00000368723.3	-	3	278	c.168C>A	c.(166-168)gcC>gcA	p.A56A	S100A7_ENST00000368722.1_Silent_p.A56A	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	56	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGACATCGGCGAGGTAAT	0.413000													19	51					3.51602e-12	6.33009e-12	0.001216	1	0
PTPRF	5792	broad.mit.edu	37	1	44054597	44054597	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44054597G>T	ENST00000359947.4	+	8	1215	c.875G>T	c.(874-876)cGc>cTc	p.R292L	PTPRF_ENST00000372413.3_Missense_Mutation_p.R292L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R292L|PTPRF_ENST00000438120.1_Missense_Mutation_p.R292L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	292	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AATGTCGTACGCTCTGCCAAC	0.597000													5	16					4.096e-09	6.98483e-09	0.001168	1	0
ABT1	29777	broad.mit.edu	37	6	26598238	26598238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26598238G>A	ENST00000274849.1	+	2	369	c.338G>A	c.(337-339)cGt>cAt	p.R113H		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	113	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTGGAGTTCCGTGACAAGCGC	0.597000													11	44					0	0	0.000673	0	0
CSMD3	114788	broad.mit.edu	37	8	114111075	114111075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:114111075C>T	ENST00000297405.5	-	5	1071	c.827G>A	c.(826-828)gGg>gAg	p.G276E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G276E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G236E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.G276E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGTGTCCCCAGGCTCTGC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	24					0	0	0.006122	0	0
LSAMP	4045	broad.mit.edu	37	3	115560725	115560725	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:115560725G>C	ENST00000490035.1	-	6	1385	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	LSAMP_ENST00000539563.1_Missense_Mutation_p.L293V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	296	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTGACCCCCAGCTTGTTGGCA	0.502000													12	91					0	0	0.001855	0	0
ALPP	250	broad.mit.edu	37	2	233244620	233244620	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233244620C>A	ENST00000392027.2	+	5	900	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	211						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			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)		CATCGCTACGCAGCTCATCTC	0.672000													16	85					4.96729e-08	8.27331e-08	0.001216	1	0
BFSP1	631	broad.mit.edu	37	20	17492691	17492691	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:17492691T>C	ENST00000377873.3	-	4	596	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	BFSP1_ENST00000536626.1_Missense_Mutation_p.Y47C|BFSP1_ENST00000377868.2_Missense_Mutation_p.Y61C|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y47C|BFSP1_ENST00000473415.1_5'UTR	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	186	Linker 12.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GATGCTGATATAGGTCTGAAC	0.463000													34	41					0	0	0.004878	0	0
TRPM8	79054	broad.mit.edu	37	2	234862641	234862641	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234862641C>T	ENST00000324695.4	+	10	1261	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Silent_p.A95A	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	407						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGAGCAATGCCATCTCCTACG	0.368000													24	8					0	0	0.003330	0	0
CDRT1	374286	broad.mit.edu	37	17	15517267	15517267	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:15517267C>G	ENST00000455584.2	-	9	1724	c.1681G>C	c.(1681-1683)Ggg>Cgg	p.G561R	CDRT1_ENST00000395906.3_Missense_Mutation_p.G251R																							GGATCGTACCCTGGCTTGGTT	0.478000													8	121					0	0	0.003080	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808770	18808770	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:18808770T>C	ENST00000400664.1	+	1	1347	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	432						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGATCTGGGCAATTGC	0.612000													72	40					0	0	0.003610	0	0
BNC2	54796	broad.mit.edu	37	9	16437438	16437438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:16437438C>T	ENST00000380672.4	-	6	811	c.754G>A	c.(754-756)Gga>Aga	p.G252R	BNC2_ENST00000380666.2_Missense_Mutation_p.G252R|BNC2_ENST00000380667.2_Missense_Mutation_p.G185R|BNC2_ENST00000545497.1_Missense_Mutation_p.G157R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGGTTTCTCCAAACCGCAGA	0.502000													23	65					0	0	0.001882	0	0
PLSCR4	57088	broad.mit.edu	37	3	145913025	145913025	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:145913025C>T	ENST00000354952.2	-	8	1071	c.831G>A	c.(829-831)cgG>cgA	p.R277R	PLSCR4_ENST00000446574.2_Silent_p.R277R|PLSCR4_ENST00000383083.2_Silent_p.R187R|PLSCR4_ENST00000493382.1_Silent_p.R277R|PLSCR4_ENST00000433593.2_Silent_p.R172R	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	277					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATTCCACTTCCGGATAATAC	0.413000													7	78					0	0	0.003080	0	0
KLHL32	114792	broad.mit.edu	37	6	97562042	97562042	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:97562042C>T	ENST00000369261.4	+	7	1374	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	KLHL32_ENST00000536676.1_Silent_p.S301S|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.S268S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	337										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGGAAGGAGCCACCATTGTG	0.562000													16	70					0	0	0.003163	0	0
PIGR	5284	broad.mit.edu	37	1	207105832	207105832	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207105832C>A	ENST00000356495.4	-	8	2160	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	659						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCTGGCCACCCCCACAGCCA	0.647000													19	82					2.35188e-11	4.17417e-11	0.006122	1	0
ROS1	6098	broad.mit.edu	37	6	117680986	117680986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:117680986G>T	ENST00000368508.3	-	23	3832	c.3634C>A	c.(3634-3636)Cgc>Agc	p.R1212S	ROS1_ENST00000368507.3_Missense_Mutation_p.R1207S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1212					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTAGAGCGATTGTGCAAG	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								29	39					1.88708e-17	3.69662e-17	0.001512	1	0
RELN	5649	broad.mit.edu	37	7	103130227	103130227	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:103130227G>T	ENST00000428762.1	-	60	9884	c.9725C>A	c.(9724-9726)aCg>aAg	p.T3242K	RELN_ENST00000424685.2_Missense_Mutation_p.T3242K|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.T3242K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3242	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCACCGGTCGTGCAGTATCC	0.532000													10	36					7.48243e-07	1.21392e-06	0.006214	1	0
SEC24A	10802	broad.mit.edu	37	5	134029560	134029560	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:134029560C>A	ENST00000398844.2	+	13	2211	c.1923C>A	c.(1921-1923)ctC>ctA	p.L641L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	641					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACACAACTCCCAACTCTTG	0.498000													15	37					1.67942e-08	2.8112e-08	0.006122	1	0
LPAR4	2846	broad.mit.edu	37	X	78011270	78011270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:78011270C>A	ENST00000435339.2	+	2	1309	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	LPAR4_ENST00000373301.2_Missense_Mutation_p.L302M	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	302						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTTGCAACTCTGAACTGTTG	0.423000													22	11					8.10497e-08	1.34322e-07	0.001523	1	0
KRT85	3891	broad.mit.edu	37	12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52756641G>T	ENST00000257901.3	-	6	1149	c.1074C>A	c.(1072-1074)tgC>tgA	p.C358*	KRT85_ENST00000544265.1_Nonsense_Mutation_p.C146*	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	358	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.C358*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597000													57	97					3.89483e-19	7.73556e-19	0.003610	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535519	90535519	+	RNA	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90535519C>A	ENST00000602681.1	+	0	1423																											TCCACCTCCTCCGAAAGGCTT	0.587000													149	231					8.49357e-55	1.80895e-54	0.003610	1	0
ATRNL1	26033	broad.mit.edu	37	10	116930892	116930892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:116930892C>G	ENST00000355044.3	+	8	1316	c.1190C>G	c.(1189-1191)aCa>aGa	p.T397R	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Q368E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	397						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCATGGAGTACAAAAACTCCT	0.383000													42	41					0	0	0.002222	0	0
RP13-60M5.2	0	broad.mit.edu	37	9	91262250	91262250	+	RNA	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:91262250A>T	ENST00000418343.2	-	0	501																											TTGCATTATAAACCAAACTAA	0.413000													5	13					0	0	0.000602	0	0
CLIP1	6249	broad.mit.edu	37	12	122825885	122825885	+	Silent	SNP	T	T	A	rs150031777		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:122825885T>A	ENST00000358808.2	-	10	1987	c.1833A>T	c.(1831-1833)ctA>ctT	p.L611L	CLIP1_ENST00000545889.1_Silent_p.L312L|CLIP1_ENST00000540338.1_Silent_p.L622L|CLIP1_ENST00000537178.1_Silent_p.L576L|CLIP1_ENST00000361654.4_Silent_p.L576L|CLIP1_ENST00000302528.7_Silent_p.L611L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	622					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGACTTCCATAGAGCTATCA	0.488000													76	105					0	0	0.003610	0	0
C5orf38	153571	broad.mit.edu	37	5	2752749	2752749	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:2752749A>T	ENST00000515640.1	+	2	233	c.214A>T	c.(214-216)Aaa>Taa	p.K72*	C5orf38_ENST00000505778.1_Nonsense_Mutation_p.K72*|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000397835.4_Nonsense_Mutation_p.K72*|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Nonsense_Mutation_p.K72*			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	72						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TGTGTTGTCAAAACACTGGGG	0.507000													42	169					0	0	0.002222	0	0
TMTC2	160335	broad.mit.edu	37	12	83251085	83251085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:83251085C>G	ENST00000549919.1	+	3	2167	c.362C>G	c.(361-363)cCc>cGc	p.P121R	TMTC2_ENST00000548305.1_Missense_Mutation_p.P127R|TMTC2_ENST00000321196.3_Missense_Mutation_p.P127R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	127						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTTCTCACCCCATTCACACG	0.517000													18	69					0	0	0.007413	0	0
IQCH	64799	broad.mit.edu	37	15	67757586	67757586	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:67757586T>G	ENST00000335894.4	+	17	2693	c.2627T>G	c.(2626-2628)gTt>gGt	p.V876G	IQCH_ENST00000546225.1_Missense_Mutation_p.V533G|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.V537G|IQCH_ENST00000358767.3_Missense_Mutation_p.V612G	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	876										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCCGCTTTGTTCCAAAGGAA	0.517000													45	48					0	0	0.002852	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725938	45725938	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:45725938A>G	ENST00000340473.6	+	4	417	c.276A>G	c.(274-276)acA>acG	p.T92T		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	92					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		GAGGACAGACATTAACAGTAT	0.373000													58	20					0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39682401	39682401	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682401A>T	ENST00000265708.4	-	4	307	c.204T>A	c.(202-204)caT>caA	p.H68Q	ADAM2_ENST00000521880.1_Missense_Mutation_p.H68Q|ADAM2_ENST00000379853.2_Missense_Mutation_p.H68Q|ADAM2_ENST00000347580.4_Missense_Mutation_p.H68Q|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	68					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTAAAATTATGGGGTAAAA	0.269000													13	33					0	0	0.002450	0	0
CXCL12	6387	broad.mit.edu	37	10	44871472	44871472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:44871472C>G	ENST00000374426.2	-	4	312	c.275G>C	c.(274-276)aGa>aCa	p.R92T	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TTTTTCTTCTCTGCGCCCCCT	0.398000													14	88					0	0	0.001855	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409710	7409710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409710C>T	ENST00000361972.4	-	4	427	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SFMBT2_ENST00000379711.2_Missense_Mutation_p.E113K|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E113K|SFMBT2_ENST00000397160.3_Missense_Mutation_p.E113K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	113					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGCGGTCCTCCCCGTAACCG	0.597000													11	26					0	0	0.000673	0	0
DNAH7	56171	broad.mit.edu	37	2	196753557	196753557	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:196753557T>A	ENST00000312428.6	-	32	5295	c.5195A>T	c.(5194-5196)gAg>gTg	p.E1732V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCATTGGCTCAAAAATTAG	0.348000													10	33					0	0	0.006214	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261232	30261232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:30261232C>T	ENST00000378982.2	+	1	1176	c.980C>T	c.(979-981)aCt>aTt	p.T327I		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	327										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGGCGTGGCACTACAGCCATG	0.517000													14	69					0	0	0.001855	0	0
UBN2	254048	broad.mit.edu	37	7	138944065	138944065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:138944065A>G	ENST00000288561.8	+	5	854	c.605A>G	c.(604-606)gAg>gGg	p.E202G	UBN2_ENST00000473989.2_Missense_Mutation_p.E285G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	285										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						AAGCGGAAAGAGGAAGGGGAA	0.388000													10	63					0	0	0.001855	0	0
OR4L1	122742	broad.mit.edu	37	14	20528889	20528889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20528889C>T	ENST00000315683.1	+	1	686	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438000													77	78					0	0	0.003610	0	0
GABRA1	2554	broad.mit.edu	37	5	161302615	161302615	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161302615G>T	ENST00000428797.2	+	7	881	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	GABRA1_ENST00000393943.4_Missense_Mutation_p.D176Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D176Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D176Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D176Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	176					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTTCCCTATGGATGCCCATGC	0.383000													17	52					2.35188e-11	4.17417e-11	0.006122	1	0
SFMBT2	57713	broad.mit.edu	37	10	7409747	7409747	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409747G>C	ENST00000361972.4	-	4	390	c.300C>G	c.(298-300)tgC>tgG	p.C100W	SFMBT2_ENST00000379711.2_Missense_Mutation_p.C100W|SFMBT2_ENST00000379713.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000397167.1_Missense_Mutation_p.C100W|SFMBT2_ENST00000397160.3_Missense_Mutation_p.C100W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	100					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGCTGCCCGCACGTGGTAA	0.567000													6	26					0	0	0.003080	0	0
CHL1	10752	broad.mit.edu	37	3	433478	433478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:433478T>A	ENST00000256509.2	+	23	3554	c.2912T>A	c.(2911-2913)aTa>aAa	p.I971K	CHL1_ENST00000397491.2_Missense_Mutation_p.I955K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	955	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATATCAGATAAGTAAGTAG	0.333000													9	24					0	0	0.006214	0	0
ST18	9705	broad.mit.edu	37	8	53045843	53045843	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:53045843G>A	ENST00000276480.7	-	20	3002	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	773						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522000													16	70					0	0	0.004990	0	0
MTBP	27085	broad.mit.edu	37	8	121475942	121475942	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121475942A>G	ENST00000305949.1	+	10	1033	c.988A>G	c.(988-990)Aac>Gac	p.N330D		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	330					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATTGACAAACAGTACCAA	0.353000													25	132					0	0	0.005443	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709239	38709239	+	RNA	SNP	T	T	C	rs112834477		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:38709239T>C	ENST00000417039.1	-	0	696																											GCCTCATATCTGGGGGAATGT	0.567000													15	75					0	0	0.004007	0	0
KIF5A	3798	broad.mit.edu	37	12	57969038	57969038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57969038C>G	ENST00000455537.2	+	16	2162	c.1888C>G	c.(1888-1890)Cag>Gag	p.Q630E	KIF5A_ENST00000286452.5_Missense_Mutation_p.Q541E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	630					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTCATCCTGCCAGCTCCTCAT	0.552000													3	20					0	0	0.004672	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874784	20874784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20874784G>T	ENST00000381552.1	+	8	1190	c.822G>T	c.(820-822)tgG>tgT	p.W274C	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.W225C|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.W274C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.W274C|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.W156C			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	274					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGGAGCCTGGTGGCTTGGCT	0.423000													18	32					2.4624e-09	4.22065e-09	0.001216	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055471	40055471	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40055471C>A	ENST00000336649.4	+	16	2382	c.2382C>A	c.(2380-2382)ttC>ttA	p.F794L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.F753L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F788L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F753L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F788L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F753L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	788					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCAAGTTCAGCCTCCGCA	0.562000													5	7					1.23904e-05	1.9259e-05	0.000602	1	0
NLRP11	204801	broad.mit.edu	37	19	56300307	56300307	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:56300307T>A	ENST00000443188.1	-	11	3431	c.2721A>T	c.(2719-2721)cgA>cgT	p.R907R	NLRP11_ENST00000592953.1_Silent_p.R808R|NLRP11_ENST00000589824.2_Silent_p.R853R|NLRP11_ENST00000589093.1_Silent_p.R907R|NLRP11_ENST00000360133.3_Silent_p.R853R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	907							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGGCAAGAGATCGACAGCAGG	0.458000													14	36					0	0	0.004007	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854905	62854905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:62854905G>A	ENST00000584306.1	-	12	5331	c.4801C>T	c.(4801-4803)Ctc>Ttc	p.L1601F	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.L578F|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L1601F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L719F|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L639F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCTCAATGAGGCAGAGAAGT	0.378000													9	48					0	0	0.004482	0	0
RNF213	57674	broad.mit.edu	37	17	78321975	78321975	+	Silent	SNP	G	G	A	rs144070062	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:78321975G>A	ENST00000582970.1	+	29	9983	c.9840G>A	c.(9838-9840)gcG>gcA	p.A3280A	RNF213_ENST00000508628.2_Silent_p.A3329A|RNF213_ENST00000336301.6_Silent_p.A1353A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617000													31	42					0	0	0.002445	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936102	94936102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94936102C>A	ENST00000337425.5	-	2	204	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A26S|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A44S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	26					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCACTGGGGGCATTGGCCGGG	0.532000													15	91					4.7546e-09	8.08041e-09	0.004007	1	0
CASP4	837	broad.mit.edu	37	11	104819393	104819393	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:104819393C>A	ENST00000444739.2	-	6	1702	c.792G>T	c.(790-792)ggG>ggT	p.G264G	CASP4_ENST00000393150.3_Silent_p.G208G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	264					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCCACAGTTCCCCACGGTTTG	0.493000													18	44					1.67942e-08	2.8112e-08	0.006122	1	0
LRP1B	53353	broad.mit.edu	37	2	142004851	142004851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:142004851C>G	ENST00000389484.3	-	5	1507	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	179	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCACACAACTGCAAGTGTA	0.388000										TSP Lung(27;0.18)			27	66					0	0	0.007291	0	0
KIF26B	55083	broad.mit.edu	37	1	245530230	245530230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:245530230G>C	ENST00000407071.2	+	3	1000	c.560G>C	c.(559-561)tGc>tCc	p.C187S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACATTTGCGCCACTCAC	0.602000													8	34					0	0	0.004482	0	0
NUDT18	79873	broad.mit.edu	37	8	21965720	21965720	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:21965720A>T	ENST00000309188.6	-	4	418	c.300T>A	c.(298-300)tgT>tgA	p.C100*	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Nonsense_Mutation_p.C23*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	100	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TCTCGGGCTCACAGTGCAGCC	0.697000													3	22					0	0	0.004672	0	0
THSD7A	221981	broad.mit.edu	37	7	11676130	11676130	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11676130G>T	ENST00000423059.3	-	2	900	c.649C>A	c.(649-651)Cgg>Agg	p.R217R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	TSP type-1 2.					integral to membrane		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617000										HNSCC(18;0.044)			5	30					1.23904e-05	1.9259e-05	0.000602	1	0
DPEP1	1800	broad.mit.edu	37	16	89696828	89696828	+	Missense_Mutation	SNP	G	G	A	rs150374214	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:89696828G>A	ENST00000393092.3	+	2	301	c.10G>A	c.(10-12)Gga>Aga	p.G4R	DPEP1_ENST00000261615.4_Missense_Mutation_p.G4R|DPEP1_ENST00000421184.1_Missense_Mutation_p.G4R	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	4					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATGTGGAGCGGATGGTGGCT	0.632000													16	91					0	0	0.004007	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567000													63	189					0	0	0.003610	0	0
PTPRF	5792	broad.mit.edu	37	1	44058190	44058190	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058190C>G	ENST00000359947.4	+	11	2071	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	PTPRF_ENST00000372413.3_Silent_p.L577L|PTPRF_ENST00000372414.3_Silent_p.L577L|PTPRF_ENST00000422171.2_Silent_p.L36L|PTPRF_ENST00000438120.1_Silent_p.L577L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	577	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGACACACTCTACCGCTTCC	0.602000													72	37					0	0	0.003610	0	0
CRY2	1408	broad.mit.edu	37	11	45892072	45892072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:45892072A>T	ENST00000443527.2	+	9	1623	c.1601A>T	c.(1600-1602)tAc>tTc	p.Y534F	CRY2_ENST00000417225.2_Missense_Mutation_p.Y452F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	513					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CTTTCGCGCTACCGGGGACTC	0.542000													8	29					0	0	0.003080	0	0
LPPR2	64748	broad.mit.edu	37	19	11470311	11470311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11470311C>T	ENST00000251473.5	+	4	546	c.170C>T	c.(169-171)gCc>gTc	p.A57V	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A32V|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					AGTACCTACGCCAAGCCCTAC	0.602000													6	52					0	0	0.001168	0	0
ADAM2	2515	broad.mit.edu	37	8	39682336	39682336	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682336A>T	ENST00000265708.4	-	4	371		c.e4+1		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000523181.1_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAAAAACATACCTGAAAATC	0.318000													6	30					0	0	0.001984	0	0
CLEC1B	51266	broad.mit.edu	37	12	10147807	10147807	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:10147807G>T	ENST00000428126.2	-	6	647	c.378C>A	c.(376-378)gtC>gtA	p.V126V	CLEC1B_ENST00000348658.4_Silent_p.V126V|CLEC1B_ENST00000298527.6_Silent_p.V159V			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	159	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GAGATAATCCGACCCAACGAA	0.433000													73	406					1.75807e-36	3.67396e-36	0.003610	1	0
ACTR1B	10120	broad.mit.edu	37	2	98275915	98275915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:98275915C>T	ENST00000289228.5	-	4	431	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	72						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CATGGGGTAGCGGATGGTCAG	0.647000													58	139					0	0	0.003610	0	0
DQX1	165545	broad.mit.edu	37	2	74750470	74750470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74750470T>A	ENST00000404568.3	-	5	1230	c.1011A>T	c.(1009-1011)caA>caT	p.Q337H	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.Q337H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	337	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CGATGACATGTTGGATGGAAG	0.542000													50	236					0	0	0.003610	0	0
OR5M1	390168	broad.mit.edu	37	11	56380575	56380575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56380575C>A	ENST00000526538.1	-	1	403	c.404G>T	c.(403-405)aGg>aTg	p.R135M		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGGACATCCTGGAACTGTA	0.453000													34	50					9.65963e-10	1.66712e-09	0.003271	1	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:126707544T>G	ENST00000251772.4	+	1	108	c.39T>G	c.(37-39)ggT>ggG	p.G13G	PLXNA1_ENST00000393409.2_Silent_p.G36G			Q9UIW2	PLXA1_HUMAN	plexin A1	36					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													9	38					0	0	0.003330	0	0
SNHG14	104472715	broad.mit.edu	37	15	25467514	25467514	+	RNA	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:25467514G>T	ENST00000453082.2	+	0	753				SNORD115-28_ENST00000363931.1_RNA	NR_003343.1																						TGAGAACCTTGTATTCTTCTG	0.522000													41	185					1.57019e-19	3.12478e-19	0.007835	1	0
TRIM71	131405	broad.mit.edu	37	3	32932010	32932010	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:32932010G>T	ENST00000383763.4	+	4	1377	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	438					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCGGATGCTGGCCCAGGTGC	0.617000													47	22					3.76604e-16	7.24962e-16	0.002522	1	0
XIRP2	129446	broad.mit.edu	37	2	168107290	168107290	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:168107290G>T	ENST00000409195.1	+	9	9477	c.9388G>T	c.(9388-9390)Gcc>Tcc	p.A3130S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2908S|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3130S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2955					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATCTACTGCCCGACGAAC	0.438000													41	42					1.30998e-17	2.57116e-17	0.005524	1	0
KIAA1407	57577	broad.mit.edu	37	3	113724674	113724674	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:113724674T>G	ENST00000295878.3	-	10	1695	c.1549A>C	c.(1549-1551)Aat>Cat	p.N517H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCTGCTTATTGCCAGGTGCA	0.542000													46	217					0	0	0.002852	0	0
DZIP1L	199221	broad.mit.edu	37	3	137803000	137803000	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:137803000G>A	ENST00000327532.2	-	8	1520	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.A386A	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	386						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCTGCAGCTGGGCACGGAGGG	0.607000													25	132					0	0	0.003330	0	0
NFRKB	4798	broad.mit.edu	37	11	129758530	129758530	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:129758530C>A	ENST00000446488.3	-	3	399	c.296G>T	c.(295-297)cGc>cTc	p.R99L	NFRKB_ENST00000524794.1_Missense_Mutation_p.R112L|NFRKB_ENST00000526940.1_Missense_Mutation_p.R99L|NFRKB_ENST00000304521.5_Missense_Mutation_p.R99L|NFRKB_ENST00000524746.1_Missense_Mutation_p.R99L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	99					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTCCAAAGCGGAAGTTCTC	0.502000													19	43					2.27731e-05	3.52331e-05	0.001882	1	0
TTN	7273	broad.mit.edu	37	2	179617888	179617888	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179617888A>G	ENST00000589042.1	-	47	11498	c.11274T>C	c.(11272-11274)caT>caC	p.H3758H	TTN_ENST00000360870.5_Silent_p.H3441H|TTN_ENST00000342992.6_Silent_p.H3441H|TTN_ENST00000460472.2_Silent_p.H3395H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Silent_p.H3441H|TTN_ENST00000342175.6_Silent_p.H3587H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.H3520H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3441							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)			CAATCCTCTCATGCAAAATTG	0.284000													7	30					0	0	0.003080	0	0
NBPF14	25832	broad.mit.edu	37	1	148004599	148004599	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:148004599C>A	ENST00000369219.1	-	22	2731	c.2715G>T	c.(2713-2715)acG>acT	p.T905T				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	905	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GACTTGTCACCGTCAAAGTAA	0.463000													13	351					8.34094e-07	1.33803e-06	0.001216	1	0
TPH2	121278	broad.mit.edu	37	12	72425354	72425354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72425354C>T	ENST00000333850.3	+	11	1493	c.1352C>T	c.(1351-1353)aCa>aTa	p.T451I		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	451					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATCCCTACACACAGAGTATT	0.408000													15	72					0	0	0.002450	0	0
RINT1	60561	broad.mit.edu	37	7	105177012	105177012	+	Splice_Site	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:105177012G>A	ENST00000257700.2	+	3	320	c.88_splice	c.e3-1	p.S30_splice		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	30					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGTTGTAGGTGACATAAAT	0.318000													43	52					0	0	0.002852	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367324	64367324	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64367324C>T	ENST00000377574.1	+	7	1994	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	SLC22A12_ENST00000473690.1_Missense_Mutation_p.A195V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A308V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A382V|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A308V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	416					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGTTGCTGGCAGGGCTCTGC	0.657000													8	33					0	0	0.003080	0	0
DCLK2	166614	broad.mit.edu	37	4	151142904	151142904	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:151142904G>T	ENST00000296550.7	+	7	1962	c.1208G>T	c.(1207-1209)gGc>gTc	p.G403V	DCLK2_ENST00000302176.8_Missense_Mutation_p.G420V|DCLK2_ENST00000506325.1_Missense_Mutation_p.G402V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	403	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGGTGATGGCAATTTTGCA	0.338000													7	29					0.000157383	0.000237977	0.003080	1	0
PRDM9	56979	broad.mit.edu	37	5	23522987	23522987	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:23522987C>A	ENST00000296682.3	+	8	1057	c.875C>A	c.(874-876)tCc>tAc	p.S292Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	292	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATGGATACTCCTGGCTGGTA	0.502000										HNSCC(3;0.000094)			17	141					0.000132079	0.00020032	0.001216	1	0
LRRCC1	85444	broad.mit.edu	37	8	86042283	86042283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86042283C>A	ENST00000414626.2	+	10	2585	c.1696C>A	c.(1696-1698)Cag>Aag	p.Q566K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q586K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	586					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAAGAACAGGAACACAG	0.348000													13	49					4.36969e-10	7.59385e-10	0.001855	1	0
LIG1	3978	broad.mit.edu	37	19	48620966	48620966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:48620966G>A	ENST00000263274.7	-	26	2931	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	LIG1_ENST00000536218.1_Missense_Mutation_p.P770S|LIG1_ENST00000427526.2_Missense_Mutation_p.P807S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	838					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACAGCGCTGGGGTCCAGCCAG	0.662000								Nucleotide excision repair (NER)					12	26					0	0	0.000978	0	0
SYNE1	23345	broad.mit.edu	37	6	152456317	152456317	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152456317G>T	ENST00000367255.5	-	142	26311	c.25710C>A	c.(25708-25710)gaC>gaA	p.D8570E	SYNE1_ENST00000341594.5_Missense_Mutation_p.D8182E|SYNE1_ENST00000354674.4_Missense_Mutation_p.D748E|SYNE1_ENST00000356820.4_Missense_Mutation_p.D3094E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D8570E|SYNE1_ENST00000539504.1_Missense_Mutation_p.D725E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8570					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTCCTTCTGTCAATGTTCT	0.353000										HNSCC(10;0.0054)			16	21					6.31663e-08	1.04858e-07	0.003163	1	0
TRAV30	28652	broad.mit.edu	37	14	22636771	22636771	+	RNA	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:22636771A>T	ENST00000557168.1	+	0	224																											GGTGGAGAACAGAAGGGTCAT	0.448000													13	46					0	0	0.001368	0	0
TRDN	10345	broad.mit.edu	37	6	123869599	123869599	+	Splice_Site	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:123869599C>G	ENST00000334268.4	-	3	708	c.391_splice	c.e3+1	p.G131_splice	TRDN_ENST00000542443.1_Splice_Site_p.G131_splice|TRDN_ENST00000546248.1_Splice_Site_p.G131_splice|TRDN_ENST00000398178.3_Splice_Site_p.G131_splice			Q13061	TRDN_HUMAN	triadin	131					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCTTTGTACCTTTATCAGTA	0.368000													3	6					0	0	0.004672	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726375	31726375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31726375C>A	ENST00000493662.2	+	14	1301	c.1245C>A	c.(1243-1245)aaC>aaA	p.N415K	MSH5_ENST00000375755.3_Missense_Mutation_p.N398K|MSH5_ENST00000375703.3_Missense_Mutation_p.N398K|MSH5_ENST00000534153.4_Missense_Mutation_p.N415K|MSH5_ENST00000375740.3_Missense_Mutation_p.N415K|MSH5_ENST00000375742.3_Missense_Mutation_p.N415K|MSH5_ENST00000375750.3_Missense_Mutation_p.N398K|MSH5_ENST00000395853.1_Missense_Mutation_p.N72K|MSH5_ENST00000431848.2_Missense_Mutation_p.N97K																							TCCTCCCCAACATAGATCCTG	0.532000													19	39					8.34094e-07	1.33803e-06	0.001216	1	0
TST	7263	broad.mit.edu	37	22	37407115	37407115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:37407115C>G	ENST00000403892.3	-	2	1581	c.847G>C	c.(847-849)Gcc>Ccc	p.A283P	TST_ENST00000249042.3_Missense_Mutation_p.A283P	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	283	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTGGGGGGGCCCGGCGAAAC	0.632000													11	101					0	0	0.000978	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803105	185803105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185803105T>A	ENST00000302277.6	+	4	3576	c.2982T>A	c.(2980-2982)taT>taA	p.Y994*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	994						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGCTGCGTTATAATTCAGGAA	0.433000													44	47					0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179395060	179395060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179395060C>G	ENST00000589042.1	-	358	106506	c.106282G>C	c.(106282-106284)Gat>Cat	p.D35428H	TTN_ENST00000342992.6_Missense_Mutation_p.D32860H|TTN_ENST00000460472.2_Missense_Mutation_p.D26363H|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33787H|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26555H|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26488H|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33787							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)			ACAGTTGTATCCTGCAACCCA	0.428000													27	123					0	0	0.004656	0	0
FANCE	2178	broad.mit.edu	37	6	35425701	35425701	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:35425701G>A	ENST00000229769.2	+	4	1094	c.909G>A	c.(907-909)gaG>gaA	p.E303E		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	303	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGGGGTTAGAGGGATTGGAGG	0.562000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				42	53					0	0	0.002852	0	0
MRPS30	10884	broad.mit.edu	37	5	44815101	44815101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44815101C>T	ENST00000507110.1	+	5	1155	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	373					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTTCTGCTACCAGCTAAATAC	0.388000													27	153					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9071210	9071210	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9071210T>C	ENST00000397910.4	-	3	16439	c.16236A>G	c.(16234-16236)acA>acG	p.T5412T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5414	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCGGCTTCTGTGTGTGCAG	0.502000													93	449					0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12418560	12418560	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:12418560G>T	ENST00000358136.3	+	50	10174	c.10044G>T	c.(10042-10044)ccG>ccT	p.P3348P	VPS13D_ENST00000356315.4_Silent_p.P3323P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3347					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGCATGCCGGGCTGGTGTC	0.512000													39	17					3.54909e-21	7.10528e-21	0.002852	1	0
PKHD1	5314	broad.mit.edu	37	6	51890545	51890545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:51890545G>A	ENST00000371117.3	-	32	4338	c.4063C>T	c.(4063-4065)Cct>Tct	p.P1355S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P1355S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1355	IPT/TIG 8; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTGAAGAGGGATGGAGCAT	0.502000													15	51					0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85654614	85654614	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85654614C>G	ENST00000322366.6	-	44	7549	c.7142G>C	c.(7141-7143)aGg>aCg	p.R2381T	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2381T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2381						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTTTTTCCTCATCCTGCA	0.527000													51	260					0	0	0.003610	0	0
SHOX2	6474	broad.mit.edu	37	3	157823782	157823782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157823782G>T	ENST00000389589.4	-	1	167	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	SHOX2_ENST00000483851.2_Missense_Mutation_p.S11Y|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.S11Y|RSRC1_ENST00000480820.1_5'UTR	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	11					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGTCAAAAGACTTGGAGAC	0.617000													15	62					1.3612e-06	2.16969e-06	0.003163	1	0
TMEM132B	114795	broad.mit.edu	37	12	126004094	126004094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:126004094G>T	ENST00000299308.3	+	4	1209	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	401						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGATTGAGGACTCCATGAG	0.532000													15	98					2.31682e-05	3.5734e-05	0.003163	1	0
CTNNAL1	8727	broad.mit.edu	37	9	111735078	111735078	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:111735078T>C	ENST00000374595.4	-	9	1303	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	CTNNAL1_ENST00000325551.4_Silent_p.L408L|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	408					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGTATTTTAATAGATCTGCTG	0.453000													27	69					0	0	0.001786	0	0
ITGB4	3691	broad.mit.edu	37	17	73738820	73738820	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:73738820C>T	ENST00000200181.3	+	25	3127	c.2940C>T	c.(2938-2940)aaC>aaT	p.N980N	ITGB4_ENST00000450894.3_Silent_p.N980N|ITGB4_ENST00000449880.2_Silent_p.N980N|ITGB4_ENST00000339591.3_Silent_p.N980N|ITGB4_ENST00000579662.1_Silent_p.N980N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	980	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGTAAACATCACCATCA	0.637000													8	69					0	0	0.004482	0	0
GPR20	2843	broad.mit.edu	37	8	142367609	142367609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:142367609G>A	ENST00000377741.3	-	2	505	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	139						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGAGGAAGAGGATGGAGCAG	0.687000													13	58					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330551	25330551	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:25330551T>C	ENST00000546682.1	+	0	453				SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ATGACTTCCTTATATACATTC	0.453000													61	82					0	0	0.003610	0	0
GART	2618	broad.mit.edu	37	21	34878379	34878379	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878379G>T	ENST00000381831.3	-	19	2748	c.2485C>A	c.(2485-2487)Cgg>Agg	p.R829R	GART_ENST00000543717.1_Silent_p.R381R|GART_ENST00000381815.4_Silent_p.R829R|GART_ENST00000381839.3_Silent_p.R829R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	829	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTTGGTTCCCGAGTACTGTCT	0.423000													45	49					1.41504e-22	2.84428e-22	0.002852	1	0
NRXN1	9378	broad.mit.edu	37	2	50724827	50724827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:50724827C>A	ENST00000404971.1	-	15	3982	c.2643G>T	c.(2641-2643)agG>agT	p.R881S	NRXN1_ENST00000405472.3_Missense_Mutation_p.R833S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.R841S|NRXN1_ENST00000402717.3_Missense_Mutation_p.R833S|NRXN1_ENST00000401669.2_Missense_Mutation_p.R841S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R841S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	841	Laminin G-like 4.				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			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)			GGAACTCCAGCCTAGTATGAT	0.388000													12	46					7.93312e-07	1.27875e-06	0.002450	1	0
NBPF20	100288142	broad.mit.edu	37	1	148252785	148252785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:148252785T>C	ENST00000369202.1	-	110	13764	c.13567A>G	c.(13567-13569)Aaa>Gaa	p.K4523E						neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						cttcttcttttcttctttgat	0.418000													5	65					0	0	0.000602	0	0
SEMA3C	10512	broad.mit.edu	37	7	80394488	80394488	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:80394488C>G	ENST00000265361.3	-	13	1987	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	SEMA3C_ENST00000544525.1_Missense_Mutation_p.E494Q|SEMA3C_ENST00000419255.2_Missense_Mutation_p.E476Q	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	476	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTTCCAGCTCCTCCAGAATG	0.388000													23	49					0	0	0.004656	0	0
UNC5C	8633	broad.mit.edu	37	4	96469982	96469982	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96469982C>T	ENST00000453304.1	-	1	375	c.27G>A	c.(25-27)gcG>gcA	p.A9A	UNC5C_ENST00000504962.1_Silent_p.A9A|UNC5C_ENST00000506749.1_Silent_p.A9A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	9					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGCGGGCCGCTGTCGCCC	0.667000													60	49					0	0	0.003610	0	0
DGKI	9162	broad.mit.edu	37	7	137148340	137148340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:137148340T>C	ENST00000424189.2	-	28	2922	c.2693A>G	c.(2692-2694)aAt>aGt	p.N898S	DGKI_ENST00000453654.1_Intron|DGKI_ENST00000288490.5_Missense_Mutation_p.N885S|DGKI_ENST00000446122.1_Missense_Mutation_p.N867S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	885					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGGGCAGGATTCCACCAGTC	0.502000													24	30					0	0	0.002780	0	0
USH2A	7399	broad.mit.edu	37	1	216062110	216062110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:216062110G>C	ENST00000366943.2	-	41	8267	c.7881C>G	c.(7879-7881)atC>atG	p.I2627M	USH2A_ENST00000307340.3_Missense_Mutation_p.I2627M|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2627	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I2627M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTTGGGATCCCTTCCG	0.498000										HNSCC(13;0.011)			17	52					0	0	0.004007	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850121	83850121	+	Splice_Site	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:83850121A>G	ENST00000349129.2	+	23	5674	c.5415_splice	c.e23+1	p.K1805_splice	DOPEY1_ENST00000237163.5_Splice_Site_p.K1786_splice|DOPEY1_ENST00000369739.3_Splice_Site_p.K1796_splice|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1805					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGCTACAAAGGTTAGACAA	0.378000													15	41					0	0	0.004007	0	0
SPEF2	79925	broad.mit.edu	37	5	35641597	35641597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:35641597C>T	ENST00000440995.2	+	3	226	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q76*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	76	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGGTGTGCAGTTTGATCA	0.388000													10	94					0	0	0.006214	0	0
LZTS2	84445	broad.mit.edu	37	10	102763890	102763890	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102763890C>A	ENST00000370220.1	+	2	4098	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	LZTS2_ENST00000370223.3_Missense_Mutation_p.D345E			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	345					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCGGGACAGTCTGGACG	0.632000													11	40					6.40141e-05	9.78292e-05	0.000978	1	0
PSMB11	122706	broad.mit.edu	37	14	23512042	23512042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23512042C>T	ENST00000408907.2	+	1	667	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGCCTACGCCCTGGCTCGC	0.627000													28	36					0	0	0.004656	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416154	103416154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:103416154C>A	ENST00000361246.2	-	26	3685	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1133	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GATTTTCCTTCAGGCAGATCA	0.527000													52	90					8.78508e-14	1.62849e-13	0.003610	1	0
PVRL3	25945	broad.mit.edu	37	3	110837676	110837676	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837676A>G	ENST00000485303.1	+	3	951	c.676A>G	c.(676-678)Acg>Gcg	p.T226A	PVRL3_ENST00000319792.3_Missense_Mutation_p.T226A|PVRL3_ENST00000493615.1_Missense_Mutation_p.T203A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	226	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGAAACGGCAACGATTATCAG	0.433000													10	58					0	0	0.000978	0	0
CRIM1	51232	broad.mit.edu	37	2	36583743	36583743	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:36583743A>G	ENST00000280527.2	+	1	675	c.308A>G	c.(307-309)gAg>gGg	p.E103G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	103	IGFBP N-terminal.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCCTCACCGAGTACGAAGCG	0.687000													11	53					0	0	0.000978	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13789488	13789488	+	Splice_Site	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13789488G>A	ENST00000378106.5	+	8	837	c.717_splice	c.e8-1	p.D240_splice	NDUFAF5_ENST00000463598.1_Splice_Site_p.D212_splice|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	240					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										TTTTAAATAGGACACTGATGA	0.338000													18	25					0	0	0.004990	0	0
MYOM2	9172	broad.mit.edu	37	8	2044190	2044190	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:2044190G>T	ENST00000262113.4	+	18	2370	c.2229G>T	c.(2227-2229)ctG>ctT	p.L743L	MYOM2_ENST00000523438.1_Silent_p.L168L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	743	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGCCCATCCTGGGCTACTACC	0.532000													13	60					1.5842e-08	2.66967e-08	0.001855	1	0
MSH4	4438	broad.mit.edu	37	1	76365339	76365339	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:76365339C>G	ENST00000263187.3	+	19	2671	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	856					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTCCACCATCAATTGTCTTG	0.303000								Mismatch excision repair (MMR)					16	41					0	0	0.001216	0	0
VAV2	7410	broad.mit.edu	37	9	136635537	136635537	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:136635537C>A	ENST00000371851.1	-	25	2605	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	VAV2_ENST00000406606.3_Silent_p.R760R|VAV2_ENST00000371850.3_Silent_p.R770R			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	770	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCGAACGTTCCCGGGACTTGT	0.647000													12	74					1.08611e-07	1.78521e-07	0.000978	1	0
KCNA1	3736	broad.mit.edu	37	12	5021762	5021762	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:5021762C>T	ENST00000382545.3	+	2	2325	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	406					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGTACCTGTCATTGTGTCCA	0.517000													170	304					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152275869	152275869	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152275869A>T	ENST00000368799.1	-	3	11528	c.11493T>A	c.(11491-11493)caT>caA	p.H3831Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3831	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCTTCATGGTGACGCG	0.587000									Ichthyosis				100	340					0	0	0.003610	0	0
SASH3	54440	broad.mit.edu	37	X	128926745	128926745	+	Missense_Mutation	SNP	G	G	C	rs35096611	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:128926745G>C	ENST00000356892.3	+	6	848	c.734G>C	c.(733-735)cGa>cCa	p.R245P		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	245										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCCAGCCGCCGACAGAGCAAG	0.597000													51	9					0	0	0.003610	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167082	42167082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:42167082G>A	ENST00000320955.6	-	23	4687	c.4460C>T	c.(4459-4461)gCc>gTc	p.A1487V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1487					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGGGGAGGCGGCCATGCC	0.637000													8	44					0	0	0.004482	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709067	38709067	+	RNA	SNP	A	A	G	rs113173138		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:38709067A>G	ENST00000417039.1	-	0	696																											ATGATTATCCAAAATGTTTCA	0.537000													10	38					0	0	0.000673	0	0
ART1	417	broad.mit.edu	37	11	3681167	3681167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:3681167C>T	ENST00000250693.1	+	3	519	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGAGGCGGGCCGCTCCCGGGC	0.667000													13	33					0	0	0.002450	0	0
CD163	9332	broad.mit.edu	37	12	7636247	7636247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:7636247G>C	ENST00000359156.4	-	12	3006	c.2804C>G	c.(2803-2805)cCc>cGc	p.P935R	CD163_ENST00000541972.1_Missense_Mutation_p.P923R|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.P968R|CD163_ENST00000432237.2_Missense_Mutation_p.P935R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	935	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGAAGTGGGTCCTTCCTG	0.468000													23	55					0	0	0.001882	0	0
NRG2	9542	broad.mit.edu	37	5	139283936	139283936	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:139283936G>C	ENST00000340391.3	-	1	46	c.47C>G	c.(46-48)cCa>cGa	p.P16R	NRG2_ENST00000545385.1_Intron|NRG2_ENST00000358522.3_Intron|NRG2_ENST00000361474.1_Intron|NRG2_ENST00000394770.1_Intron|NRG2_ENST00000289422.7_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000541337.1_Intron			O14511	NRG2_HUMAN	neuregulin 2	0					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCCCTCTGGGTGCTTCTT	0.716000													7	20					0	0	0.004482	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866875	131866875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:131866875C>T	ENST00000359827.3	-	17	4195	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1078E			Q9HCM2	PLXA4_HUMAN	plexin A4	1078	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTTCCCTCCATGCTTGGC	0.557000													24	37					0	0	0.007291	0	0
ECM1	1893	broad.mit.edu	37	1	150480696	150480696	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:150480696C>G	ENST00000369047.4	+	1	136	c.11C>G	c.(10-12)aCa>aGa	p.T4R	ECM1_ENST00000346569.6_Missense_Mutation_p.T4R|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.T4R	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	4					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGGACCACAGCCAGAGCA	0.597000													28	55					0	0	0.006320	0	0
MAPK11	5600	broad.mit.edu	37	22	50705104	50705104	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:50705104A>C	ENST00000449719.2	-	6	881	c.545T>G	c.(544-546)gTg>gGg	p.V182G	MAPK11_ENST00000330651.6_Intron			Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	0	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAGACCCACAGTCACATC	0.642000													4	18					0	0	0.000248	0	0
TUT1	64852	broad.mit.edu	37	11	62343587	62343587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:62343587C>T	ENST00000476907.1	-	9	2295	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	TUT1_ENST00000308436.7_Missense_Mutation_p.R573H|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	535	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGCCAAGGCGCAGACCCTC	0.622000													11	39					0	0	0.000673	0	0
M1AP	130951	broad.mit.edu	37	2	74867187	74867187	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74867187C>T	ENST00000290536.5	-	2	332	c.216G>A	c.(214-216)caG>caA	p.Q72Q	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.Q72Q|M1AP_ENST00000536235.1_Silent_p.Q72Q	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TGCACTCATGCTGATCTTGTA	0.443000													27	26					0	0	0.005443	0	0
CTNND2	1501	broad.mit.edu	37	5	11236908	11236908	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11236908C>A	ENST00000304623.8	-	10	1845	c.1656G>T	c.(1654-1656)ctG>ctT	p.L552L	CTNND2_ENST00000503622.1_Silent_p.L215L|CTNND2_ENST00000458100.2_Silent_p.L119L|CTNND2_ENST00000511377.1_Silent_p.L461L|CTNND2_ENST00000359640.2_Silent_p.L552L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	552					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACTTCCGGCAGTTCCGGGT	0.473000													42	123					2.66277e-13	4.89968e-13	0.006999	1	0
OR5M11	219487	broad.mit.edu	37	11	56309852	56309852	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56309852T>C	ENST00000528616.2	-	1	905	c.882A>G	c.(880-882)aaA>aaG	p.K294K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTTCACATCTTTATTCCTCA	0.373000													11	40					0	0	0.001368	0	0
GPR132	29933	broad.mit.edu	37	14	105521755	105521755	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:105521755C>A	ENST00000329797.3	-	3	914	c.3G>T	c.(1-3)atG>atT	p.M1I	GPR132_ENST00000392585.2_Intron|GPR132_ENST00000546679.1_Intron|GPR132_ENST00000539291.2_Start_Codon_SNP_p.M1I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	1					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		gcattgggcacattcacattc	0.443000													51	96					9.90819e-18	1.95238e-17	0.003610	1	0
PNPLA7	375775	broad.mit.edu	37	9	140357226	140357226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140357226C>A	ENST00000406427.1	-	30	3739	c.3403G>T	c.(3403-3405)Gat>Tat	p.D1135Y	PNPLA7_ENST00000277531.4_Missense_Mutation_p.D1110Y|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.D716Y	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1110					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCGTCTCATCTCGGCTGCCC	0.617000													29	60					2.68265e-12	4.84892e-12	0.002836	1	0
MTA1	9112	broad.mit.edu	37	14	105926711	105926711	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:105926711G>T	ENST00000331320.7	+	9	884	c.670G>T	c.(670-672)Gca>Tca	p.A224S	MTA1_ENST00000406191.1_Missense_Mutation_p.A224S|MTA1_ENST00000405646.1_Missense_Mutation_p.A207S	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	224	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGGCACCTTCGCACGGGCCCT	0.687000													9	37					7.48243e-07	1.21392e-06	0.006214	1	0
UNC79	57578	broad.mit.edu	37	14	94088986	94088986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94088986C>T	ENST00000553484.1	+	31	5627	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	UNC79_ENST00000555664.1_Missense_Mutation_p.P1803S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1626S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1803S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1803						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGTGAGAAGCCTGATACCAG	0.498000													9	52					0	0	0.006214	0	0
CELSR1	9620	broad.mit.edu	37	22	46760459	46760459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:46760459C>T	ENST00000262738.3	-	33	8728	c.8729G>A	c.(8728-8730)aGc>aAc	p.S2910N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2910					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGCCCCCGCTCTCCTGGTC	0.692000													50	15					0	0	0.003610	0	0
RAB7A	7879	broad.mit.edu	37	3	128514247	128514247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:128514247A>T	ENST00000265062.3	+	2	283	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	RAB7A_ENST00000482525.1_Missense_Mutation_p.I13F|RAB7A_ENST00000485280.1_Missense_Mutation_p.I13F	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	13					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		GAAGGTTATCATCCTGGGAGA	0.458000											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	48					0	0	0.003610	0	0
PVRL3	25945	broad.mit.edu	37	3	110837725	110837725	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837725G>T	ENST00000485303.1	+	3	1000	c.725G>T	c.(724-726)aGg>aTg	p.R242M	PVRL3_ENST00000319792.3_Missense_Mutation_p.R242M|PVRL3_ENST00000493615.1_Missense_Mutation_p.R219M	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	242	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GCTAGAGGAAGGCGAATTACT	0.373000													14	59					7.93312e-07	1.27875e-06	0.002450	1	0
OR5T3	390154	broad.mit.edu	37	11	56020200	56020200	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56020200C>T	ENST00000303059.3	+	1	525	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCCACTCATCACTGCTTCCT	0.433000													99	120					0	0	0.003610	0	0
ZNF587	84914	broad.mit.edu	37	19	58370975	58370975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58370975C>T	ENST00000339656.5	+	3	1377	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q398*|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q356*|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTTCACCATCAGCGAGGTCA	0.473000													66	97					0	0	0.003610	0	0
UNC5C	8633	broad.mit.edu	37	4	96222797	96222797	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96222797C>A	ENST00000453304.1	-	3	798	c.450G>T	c.(448-450)gcG>gcT	p.A150A	UNC5C_ENST00000504962.1_Silent_p.A150A|UNC5C_ENST00000506749.1_Silent_p.A150A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	150	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGTGGTACCCGCGGAGCTCC	0.502000													26	24					0.000586117	0.000874371	0.003954	1	0
DNAJC12	56521	broad.mit.edu	37	10	69571401	69571401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:69571401G>A	ENST00000225171.2	-	3	330	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DNAJC12_ENST00000483798.2_Nonsense_Mutation_p.Q90*|DNAJC12_ENST00000339758.7_Nonsense_Mutation_p.Q60*	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	60	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTTGCCTTCTGCAGTTTCTGA	0.458000													23	69					0	0	0.002780	0	0
CEP112	201134	broad.mit.edu	37	17	63822338	63822338	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:63822338T>C	ENST00000317442.8	-	1	323	c.80A>G	c.(79-81)aAt>aGt	p.N27S	CEP112_ENST00000535342.2_Intron|CEP112_ENST00000537949.1_Intron|CEP112_ENST00000580482.1_Intron|CEP112_ENST00000392769.2_Intron|CEP112_ENST00000541355.1_Intron	NM_001037325.2	NP_001032402.1	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	758						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GACATTACCATTCTCTTCTCT	0.458000													75	220					0	0	0.003610	0	0
ZNF222	7673	broad.mit.edu	37	19	44536610	44536610	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:44536610A>G	ENST00000187879.8	+	4	945	c.783A>G	c.(781-783)atA>atG	p.I261M	ZNF222_ENST00000391960.3_Missense_Mutation_p.I301M|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AATGTGAAATATGTGGTAAGA	0.393000													39	99					0	0	0.006230	0	0
ADNP2	22850	broad.mit.edu	37	18	77896155	77896155	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:77896155G>C	ENST00000262198.4	+	4	3314	c.2859G>C	c.(2857-2859)ccG>ccC	p.P953P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	953					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGGCCCAGCCGGGTTTTATTC	0.532000													22	29					0	0	0.001882	0	0
AOC4P	90586	broad.mit.edu	37	17	41019918	41019918	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:41019918T>C	ENST00000585538.1	+	0	757					NR_002773.1																						CGGAACCTGGTGACAATGACC	0.587000													8	44					0	0	0.004482	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508711	106508711	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:106508711C>G	ENST00000359195.3	+	2	1015	c.705C>G	c.(703-705)gtC>gtG	p.V235V	PIK3CG_ENST00000440650.2_Silent_p.V235V|PIK3CG_ENST00000496166.1_Silent_p.V235V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	235					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATTAAGGTCTCACCCGACG	0.547000													35	84					0	0	0.004289	0	0
ELF1	1997	broad.mit.edu	37	13	41515109	41515109	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:41515109T>C	ENST00000239882.3	-	8	1518	c.1204A>G	c.(1204-1206)Aga>Gga	p.R402G	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.R378G	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	402					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTACTGGTTCTAGCTGCTTCT	0.468000													60	24					0	0	0.003610	0	0
SNHG23	100507242	broad.mit.edu	37	14	101421722	101421722	+	RNA	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:101421722C>T	ENST00000556637.1	+	0	399				SNORD114-5_ENST00000362928.1_RNA																							TGATGATGACCACTGGTGGCC	0.398000													13	53					0	0	0.002450	0	0
ELK3	2004	broad.mit.edu	37	12	96641260	96641260	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:96641260A>C	ENST00000228741.3	+	3	1076	c.750A>C	c.(748-750)tcA>tcC	p.S250S	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	250					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCCCAACTCACCCCTCCCTT	0.582000													6	136					0	0	0.004007	0	0
ZNF536	9745	broad.mit.edu	37	19	30935396	30935396	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:30935396T>A	ENST00000355537.3	+	2	1074	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTTCGCGGCTTCGCAGGAGG	0.642000													84	116					0	0	0.003610	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357267	36357267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:36357267C>T	ENST00000360202.5	+	15	2198	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P647L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P632L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	667	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACCCCACCCTCGAGCTTTC	0.612000													77	155					0	0	0.003610	0	0
A2M	2	broad.mit.edu	37	12	9230012	9230012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:9230012C>A	ENST00000318602.7	-	27	3588	c.3281G>T	c.(3280-3282)gGa>gTa	p.G1094V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATCTTCTACTCCTCCCTGTGA	0.453000													7	24					7.48243e-07	1.21392e-06	0.006214	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889341	105889341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:105889341G>C	ENST00000393359.2	-	10	2369	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S648C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	648					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTATAAATCAGATTTCTGGAG	0.557000													19	46					0	0	0.007413	0	0
RAB41	347517	broad.mit.edu	37	X	69502178	69502178	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:69502178G>T	ENST00000374473.2	+	1	157	c.111G>T	c.(109-111)ctG>ctT	p.L37L	RAB41_ENST00000276066.4_Silent_p.L37L			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						TCTTATTCCTGGGAGAGCAGA	0.557000													13	9					9.05144e-12	1.61506e-11	0.001855	1	0
SNAI3	333929	broad.mit.edu	37	16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:88747799C>T	ENST00000332281.5	-	2	486	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	134					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667000													59	75					0	0	0.003610	0	0
OR5I1	10798	broad.mit.edu	37	11	55703773	55703773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703773G>A	ENST00000301532.3	-	1	103	c.104C>T	c.(103-105)aCa>aTa	p.T35I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGCATACAATGTCAGAAACAT	0.393000													8	28					0	0	0.003080	0	0
MSN	4478	broad.mit.edu	37	X	64959704	64959704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:64959704G>T	ENST00000360270.5	+	13	1855	c.1683G>T	c.(1681-1683)caG>caT	p.Q561H	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	561					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCCTGCGCCAGATCCGGCAGG	0.547000			T	ALK	ALCL								24	27					1.1804e-14	2.22519e-14	0.003954	1	0
RNF20	56254	broad.mit.edu	37	9	104314536	104314536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:104314536C>G	ENST00000389120.3	+	12	1612	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	508					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAGTCTGACCTGAACAAGGT	0.443000													26	116					0	0	0.004656	0	0
NRG3	10718	broad.mit.edu	37	10	84498357	84498357	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:84498357C>A	ENST00000372142.2	+	4	589	c.315C>A	c.(313-315)gtC>gtA	p.V105V	NRG3_ENST00000556918.1_Silent_p.V156V|NRG3_ENST00000404547.1_Silent_p.V326V|NRG3_ENST00000404576.2_Silent_p.V130V|NRG3_ENST00000372141.2_Silent_p.V326V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	326	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAAGGAGTCCGTTGTGATC	0.388000													11	36					0.00010058	0.000152778	0.001368	1	0
HSPG2	3339	broad.mit.edu	37	1	22179293	22179293	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:22179293C>T	ENST00000374695.3	-	52	6703	c.6624G>A	c.(6622-6624)gtG>gtA	p.V2208V	HSPG2_ENST00000430507.1_Silent_p.V154V	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2208	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGCCGGGGTCACCTGGTGCA	0.657000													19	44					0	0	0.006122	0	0
TTC8	123016	broad.mit.edu	37	14	89300041	89300041	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:89300041C>G	ENST00000380656.2	+	2	165	c.119C>G	c.(118-120)cCa>cGa	p.P40R	TTC8_ENST00000346301.4_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000338104.6_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	40			Missing (in RP51).		cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCCAGGAACCAGATCCTGAA	0.348000													10	49					0	0	0.001368	0	0
OVCH1	341350	broad.mit.edu	37	12	29630038	29630038	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:29630038T>C	ENST00000318184.5	-	12	1373	c.1374A>G	c.(1372-1374)atA>atG	p.I458M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	458	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCCTACCTTTATAATGTGCT	0.393000													8	20					0	0	0.003080	0	0
OR10A7	121364	broad.mit.edu	37	12	55614811	55614811	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:55614811G>C	ENST00000326258.1	+	1	3	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTAAGATATGATCTGTGAAA	0.313000													24	108					0	0	0.003954	0	0
OR5I1	10798	broad.mit.edu	37	11	55703379	55703379	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703379A>G	ENST00000301532.3	-	1	497	c.498T>C	c.(496-498)ttT>ttC	p.F166F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTCAGAATAAAGGCAAAGG	0.413000													28	28					0	0	0.005443	0	0
MAML1	9794	broad.mit.edu	37	5	179192840	179192840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:179192840G>T	ENST00000292599.3	+	2	1092	c.829G>T	c.(829-831)Gag>Tag	p.E277*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	277					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTTCGAGGAGAAGAAGGA	0.512000													26	69					7.68411e-24	1.5602e-23	0.001512	1	0
NOD2	64127	broad.mit.edu	37	16	50733572	50733572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50733572C>A	ENST00000300589.2	+	2	352	c.247C>A	c.(247-249)Cac>Aac	p.H83N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	83	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCTCTCTCCCACTTGGCCAG	0.637000													53	49					9.55421e-19	1.89007e-18	0.003610	1	0
UTS2B	257313	broad.mit.edu	37	3	190995894	190995894	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:190995894T>C	ENST00000340524.5	-	6	955	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	UTS2B_ENST00000427544.2_Missense_Mutation_p.K57E	NM_198152.3	NP_937795.2			urotensin 2B																		TCAAAATTTTTATTCAGTAGA	0.284000													17	15					0	0	0.001882	0	0
TMEM237	65062	broad.mit.edu	37	2	202494493	202494493	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:202494493C>A	ENST00000409444.2	-	8	929	c.612G>T	c.(610-612)tgG>tgT	p.W204C	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Missense_Mutation_p.W212C	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	236						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CTCTGGTGGTCCAGGAAGGCT	0.428000													26	78					2.44723e-14	4.58741e-14	0.004656	1	0
GPR98	84059	broad.mit.edu	37	5	90015959	90015959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:90015959G>C	ENST00000405460.2	+	44	9638	c.9542G>C	c.(9541-9543)gGg>gCg	p.G3181A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3181					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTAGACTAGGGGTGCATGTT	0.413000													19	51					0	0	0.006122	0	0
SCN1A	6323	broad.mit.edu	37	2	166892851	166892851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:166892851C>G	ENST00000423058.2	-	16	3153	c.3136G>C	c.(3136-3138)Gat>Cat	p.D1046H	SCN1A_ENST00000303395.4_Missense_Mutation_p.D1046H|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1035H|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1018H|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1046						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAATTTCATCTAAAATCTTT	0.318000													26	25					0	0	0.003330	0	0
FBXL7	23194	broad.mit.edu	37	5	15937116	15937116	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:15937116C>A	ENST00000504595.1	+	4	1778	c.1297C>A	c.(1297-1299)Ctc>Atc	p.L433I	FBXL7_ENST00000329673.7_Missense_Mutation_p.L421I|FBXL7_ENST00000510662.1_Missense_Mutation_p.L386I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	433					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCAAGCGGCTCAGCCTCAA	0.587000													5	81					3.59834e-05	5.53293e-05	0.001168	1	0
EYA4	2070	broad.mit.edu	37	6	133836544	133836544	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:133836544A>T	ENST00000367895.5	+	17	2051	c.1587A>T	c.(1585-1587)gcA>gcT	p.A529A	EYA4_ENST00000355286.6_Silent_p.A506A|EYA4_ENST00000452339.2_Silent_p.A475A|EYA4_ENST00000355167.3_Silent_p.A529A|EYA4_ENST00000431403.2_Silent_p.A529A|EYA4_ENST00000430974.2_Silent_p.A481A|EYA4_ENST00000531901.1_Silent_p.A535A|EYA4_ENST00000525849.1_Silent_p.A506A|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	529					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAACAAATGCACTTAAGTCTT	0.393000													35	121					0	0	0.003271	0	0
OR13C2	392376	broad.mit.edu	37	9	107367190	107367190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:107367190G>C	ENST00000542196.1	-	1	761	c.719C>G	c.(718-720)aCc>aGc	p.T240S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGAACAGGTAGAGGAAGC	0.403000													21	90					0	0	0.001523	0	0
OR4C46	119749	broad.mit.edu	37	11	51515337	51515337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:51515337C>A	ENST00000328188.1	+	1	56	c.56C>A	c.(55-57)cCa>cAa	p.P19Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACAGAGAATCCAAAGATGCAG	0.363000													20	98					0.000175454	0.000264901	0.001523	1	0
LRRN1	57633	broad.mit.edu	37	3	3886778	3886778	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:3886778C>G	ENST00000319331.3	+	2	1214	c.453C>G	c.(451-453)aaC>aaG	p.N151K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	151						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCTACATCAACCACAACCAAA	0.398000													10	29					0	0	0.000673	0	0
CHD6	84181	broad.mit.edu	37	20	40101970	40101970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:40101970C>T	ENST00000373233.3	-	17	2833	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	886	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCTGCAAGTCATTTTGTGGG	0.498000													6	52					0	0	0.001168	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335111	64335111	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64335111C>A	ENST00000301891.4	+	7	1473	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	SLC22A11_ENST00000377581.3_Missense_Mutation_p.L367M|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	367					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GGTCTTCGACCTGCAGAGCCT	0.632000													80	80					5.95195e-44	1.26227e-43	0.003610	1	0
DPP4	1803	broad.mit.edu	37	2	162876781	162876781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:162876781G>T	ENST00000360534.3	-	14	1762	c.1202C>A	c.(1201-1203)aCc>aAc	p.T401N		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	401					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GACTTCCCAGGTGCCTTTTGT	0.338000													14	48					4.93089e-13	9.05655e-13	0.002450	1	0
TBX15	6913	broad.mit.edu	37	1	119474274	119474274	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:119474274A>C	ENST00000369429.3	-	2	396	c.387T>G	c.(385-387)atT>atG	p.I129M	TBX15_ENST00000207157.3_Missense_Mutation_p.I23M			Q96SF7	TBX15_HUMAN	T-box 15	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTTCAGTTCCAATATCATGGA	0.493000													9	40					0	0	0.006214	0	0
BCORL1	63035	broad.mit.edu	37	X	129149304	129149304	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:129149304G>T	ENST00000540052.1	+	3	2600	c.2556G>T	c.(2554-2556)ctG>ctT	p.L852L	BCORL1_ENST00000303743.5_Silent_p.L852L|BCORL1_ENST00000359304.2_Silent_p.L852L|BCORL1_ENST00000218147.7_Silent_p.L852L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	852					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGGGCAGCTGACCCCCAGTC	0.617000													83	27					2.13431e-38	4.48832e-38	0.003610	1	0
VSX1	30813	broad.mit.edu	37	20	25057164	25057164	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:25057164C>A	ENST00000376709.4	-	5	1094	c.831G>T	c.(829-831)ggG>ggT	p.G277G	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	277	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCCTTATCATCCCCATGGATT	0.353000													25	109					3.01185e-09	5.14481e-09	0.003954	1	0
CCDC180	100499483	broad.mit.edu	37	9	100070394	100070394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:100070394C>T	ENST00000375202.2	+	16	1533	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q61*|CCDC180_ENST00000357054.1_Nonsense_Mutation_p.Q200*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.Q61*|CCDC180_ENST00000395220.1_Nonsense_Mutation_p.Q200*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GAAAGCCTACCAGCAGATCTT	0.617000													30	47					0	0	0.006320	0	0
LRIT1	26103	broad.mit.edu	37	10	85992290	85992290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:85992290C>T	ENST00000372105.3	-	4	1286	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	422						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGTCCTGCCCGCCCATCAGA	0.617000													20	64					0	0	0.001882	0	0
DOPEY2	9980	broad.mit.edu	37	21	37652588	37652588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:37652588A>G	ENST00000399151.3	+	31	6060	c.5975A>G	c.(5974-5976)aAg>aGg	p.K1992R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1992					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGTTGGAAGTCCATTATT	0.289000													8	27					0	0	0.004482	0	0
CPT1A	1374	broad.mit.edu	37	11	68540781	68540781	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68540781C>T	ENST00000265641.5	-	14	1846	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	CPT1A_ENST00000540367.1_Silent_p.T564T|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Silent_p.T564T|CPT1A_ENST00000539743.1_Silent_p.T564T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	564	Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCTGGGCTCGTGCGACATT	0.527000													11	47					0	0	0.000978	0	0
SSH1	54434	broad.mit.edu	37	12	109182593	109182593	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:109182593T>C	ENST00000326495.5	-	15	2414	c.2321A>G	c.(2320-2322)aAg>aGg	p.K774R	SSH1_ENST00000360239.3_Missense_Mutation_p.K462R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	774					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGATTCTTCCTTTATTACCAC	0.468000													65	89					0	0	0.003610	0	0
SPATA16	83893	broad.mit.edu	37	3	172835472	172835472	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:172835472T>C	ENST00000351008.3	-	2	233	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	17					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGATCATGATAGATCCTATT	0.433000													104	160					0	0	0.003610	0	0
EPB42	2038	broad.mit.edu	37	15	43507460	43507460	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:43507460T>C	ENST00000300215.3	-	3	810	c.353A>G	c.(352-354)aAg>aGg	p.K118R	EPB42_ENST00000441366.2_Missense_Mutation_p.K88R|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	88					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACTCCACCACTTTCGGTCCCC	0.562000													29	88					0	0	0.007291	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175187	143175187	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:143175187C>A	ENST00000408916.1	+	1	222	c.222C>A	c.(220-222)gtC>gtA	p.V74V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	74					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCAGAAGGTCGAGTACTCTG	0.552000													25	110					2.21704e-12	4.02038e-12	0.002780	1	0
HMHB1	57824	broad.mit.edu	37	5	143200051	143200051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:143200051T>C	ENST00000289448.2	+	2	151	c.44T>C	c.(43-45)cTg>cCg	p.L15P	CTB-57H20.1_ENST00000503323.1_RNA	NM_021182.1	NP_067005.1	O97980	HMHB1_HUMAN	histocompatibility (minor) HB-1	15	Loss of recognition by cytotoxic T lymphocyte (CTL).												Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATAGGTTCTCTGCATGTTTGG	0.393000													34	73					0	0	0.003755	0	0
REG1A	5967	broad.mit.edu	37	2	79348716	79348716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:79348716G>T	ENST00000233735.1	+	3	196	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	31					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTGCCCCAGGCCCGGATCA	0.517000													101	219					4.18329e-38	8.76041e-38	0.003610	1	0
SLC5A5	6528	broad.mit.edu	37	19	18004623	18004623	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18004623T>A	ENST00000222248.3	+	15	2216	c.1869T>A	c.(1867-1869)gcT>gcA	p.A623A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	623					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGAGGGGGCTGGCTCTTGGA	0.602000													5	10					0	0	0.000602	0	0
LRRC34	151827	broad.mit.edu	37	3	169514002	169514002	+	Splice_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:169514002G>C	ENST00000522526.2	-	8	1405	c.968_splice	c.e8+1	p.A323_splice	LRRC34_ENST00000446859.1_Splice_Site_p.A355_splice|LRRC34_ENST00000316515.7_Splice_Site_p.A310_splice|LRRC34_ENST00000522830.1_Splice_Site_p.A294_splice|LRRC34_ENST00000524327.1_5'UTR			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	310										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCATACTAACGCTTTAAGACT	0.303000													46	50					0	0	0.002852	0	0
REM1	28954	broad.mit.edu	37	20	30065673	30065673	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:30065673C>A	ENST00000201979.2	+	3	676	c.383C>A	c.(382-384)aCc>aAc	p.T128N		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	128					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAAGACACCACACTGGTG	0.562000													9	24					0.000673444	0.00100166	0.000673	1	0
DPP9	91039	broad.mit.edu	37	19	4704017	4704017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:4704017C>T	ENST00000262960.9	-	7	927	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	DPP9_ENST00000597849.1_Missense_Mutation_p.R217Q|DPP9_ENST00000594671.1_Missense_Mutation_p.R188Q|DPP9_ENST00000598800.1_Missense_Mutation_p.R188Q	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	188					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGGTCCATCCGGGGCCCTGA	0.637000													13	25					0	0	0.001855	0	0
SF3B1	23451	broad.mit.edu	37	2	198263271	198263271	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198263271C>G	ENST00000335508.5	-	21	3139	c.3048G>C	c.(3046-3048)ctG>ctC	p.L1016L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1016					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTAGGCAGCAGATCTTTAA	0.353000			Mis		myelodysplastic syndrome								31	75					0	0	0.001512	0	0
EP400	57634	broad.mit.edu	37	12	132491392	132491392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:132491392G>A	ENST00000333577.4	+	16	3491	c.3382G>A	c.(3382-3384)Gct>Act	p.A1128T	EP400_ENST00000332482.4_Missense_Mutation_p.A1055T|EP400_ENST00000330386.6_Missense_Mutation_p.A1092T|EP400_ENST00000389562.2_Missense_Mutation_p.A1091T|EP400_ENST00000389561.2_Missense_Mutation_p.A1092T			Q96L91	EP400_HUMAN	E1A binding protein p400	1128	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGATCATTGCTTTTTTTGC	0.428000													24	36					0	0	0.002780	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858285	9858285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:9858285G>T	ENST00000396573.2	-	14	3425	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1039E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A882E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1039E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1039					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTATTCTCTGCTGTTGCCTC	0.537000													88	101					4.92795e-40	1.0385e-39	0.003610	1	0
GRM3	2913	broad.mit.edu	37	7	86394734	86394734	+	Missense_Mutation	SNP	G	G	C	rs150518450		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:86394734G>C	ENST00000361669.2	+	2	1372	c.273G>C	c.(271-273)ttG>ttC	p.L91F	GRM3_ENST00000394720.2_Missense_Mutation_p.L89F|GRM3_ENST00000439827.1_Missense_Mutation_p.L91F|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	91					synaptic transmission	integral to plasma membrane		p.L91F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGTGAAGTTGGGTGTTCACA	0.433000													31	126					0	0	0.002096	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684161	33684161	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:33684161C>A	ENST00000504830.1	-	4	970		c.e4-1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAACACTGTCTAAACAGTAA	0.413000										HNSCC(64;0.19)			7	37					2.74318e-10	4.80897e-10	0.006214	1	0
ARID5B	84159	broad.mit.edu	37	10	63851213	63851213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:63851213G>T	ENST00000279873.7	+	10	2401	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V	ARID5B_ENST00000309334.5_Missense_Mutation_p.G421V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	664					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCTGACTGGGCCCATGAAC	0.532000													8	31					0.00307968	0.00453347	0.003080	1	0
TENM1	10178	broad.mit.edu	37	X	123615699	123615699	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:123615699C>A	ENST00000422452.2	-	22	3895	c.3832G>T	c.(3832-3834)Gat>Tat	p.D1278Y	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.D1271Y	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGGACAGATCTTTCGTCTCC	0.458000													53	44					2.43277e-16	4.69211e-16	0.003610	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													6	83					0	0	0.006214	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022385	51022385	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:51022385C>A	ENST00000599957.1	-	3	782	c.585G>T	c.(583-585)ctG>ctT	p.L195L	LRRC4B_ENST00000389201.3_Silent_p.L195L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	195						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGATGTATTCCAGCCGCTTGA	0.652000													9	28					2.17888e-05	3.37625e-05	0.006214	1	0
POPDC3	64208	broad.mit.edu	37	6	105609578	105609578	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105609578C>G	ENST00000254765.3	-	2	485	c.207G>C	c.(205-207)tgG>tgC	p.W69C	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	69						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACATCTACCCAAGCCCAGA	0.428000													33	118					0	0	0.001786	0	0
SMYD3	64754	broad.mit.edu	37	1	246518367	246518367	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:246518367C>A	ENST00000490107.1	-	2	233	c.17G>T	c.(16-18)tGc>tTc	p.C6F	SMYD3_ENST00000541742.1_Missense_Mutation_p.C6F|SMYD3_ENST00000403792.3_Missense_Mutation_p.C65F|SMYD3_ENST00000388985.4_Missense_Mutation_p.C65F	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	65						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGCGACGCGGCACTGAGAGCA	0.373000													11	37					1.5842e-08	2.66967e-08	0.001855	1	0
CTRB2	440387	broad.mit.edu	37	16	75238069	75238069	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:75238069G>T	ENST00000303037.8	-	7	825	c.782C>A	c.(781-783)gCc>gAc	p.A261D		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	261	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TCAGTTGGCGGCCAGGATCTT	0.607000													51	79					4.17463e-26	8.52817e-26	0.003610	1	0
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:100677500C>A	ENST00000306151.4	+	3	2867	c.2803C>A	c.(2803-2805)Ccg>Acg	p.P935T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517000													130	553					1.03418e-33	2.1567e-33	0.003610	1	0
NPY4R	5540	broad.mit.edu	37	10	47087815	47087815	+	Silent	SNP	C	C	G	rs142467576		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:47087815C>G	ENST00000374312.1	+	3	1451	c.1032C>G	c.(1030-1032)gcC>gcG	p.A344A	NPY4R_ENST00000395716.1_Silent_p.A344A	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		AGCAGAGCGCCCCCCTGGAGG	0.562000													17	82					0	0	0.004990	0	0
ZFP90	146198	broad.mit.edu	37	16	68591909	68591909	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:68591909G>A	ENST00000570495.1	+	3	334	c.42G>A	c.(40-42)gtG>gtA	p.V14V	ZFP90_ENST00000563169.2_Silent_p.V14V|ZFP90_ENST00000398253.2_Silent_p.V14V|ZFP90_ENST00000564323.1_Silent_p.V14V|ZFP90_ENST00000570884.1_3'UTR			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	14	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGGAATCAGTGACATTCAAAG	0.463000													22	135					0	0	0.002780	0	0
WDFY3	23001	broad.mit.edu	37	4	85657475	85657475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85657475C>A	ENST00000322366.6	-	42	7170	c.6763G>T	c.(6763-6765)Gaa>Taa	p.E2255*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.E2255*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATTTCTTTTCATGGGCTATT	0.353000													14	25					9.31168e-06	1.45413e-05	0.001855	1	0
FIGNL1	63979	broad.mit.edu	37	7	50514817	50514817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:50514817T>A	ENST00000419119.1	-	2	1722	c.169A>T	c.(169-171)Aaa>Taa	p.K57*	FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000435566.1_Intron			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	57					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGAACAGTTTGGTAGCACAG	0.393000													15	42					0	0	0.003163	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825963	31825963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:31825963T>A	ENST00000354297.4	+	3	334	c.263T>A	c.(262-264)cTt>cAt	p.L88H	BPIFA1_ENST00000375422.2_Missense_Mutation_p.L88H|BPIFA1_ENST00000375413.4_Missense_Mutation_p.L88H	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	88					innate immune response	extracellular region	lipid binding										GGTGGCCTCCTTGGGGGACTG	0.537000													25	97					0	0	0.003954	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373684	11373684	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:11373684A>C	ENST00000528848.2	-	1	1220	c.983T>G	c.(982-984)gTg>gGg	p.V328G	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CTGGTCCTTCACAACAGTGTA	0.547000													8	69					0	0	0.004482	0	0
NRROS	375387	broad.mit.edu	37	3	196388450	196388450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196388450C>A	ENST00000328557.4	+	3	2139	c.1936C>A	c.(1936-1938)Ctg>Atg	p.L646M		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GTGGGAGCGGCTGGACCTGGG	0.637000													53	167					4.25531e-23	8.58784e-23	0.003610	1	0
FUT9	10690	broad.mit.edu	37	6	96651163	96651163	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:96651163C>A	ENST00000302103.5	+	3	458	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	44					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGAATCAGCCAGCTCTGTGC	0.403000													32	34					1.62565e-12	2.95868e-12	0.002445	1	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231308	29231308	+	RNA	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:29231308G>T	ENST00000441381.1	+	0	79																											ATGCAATTTTGACCATTGCAG	0.438000													9	48					1.58986e-06	2.52612e-06	0.000673	1	0
TSPAN16	26526	broad.mit.edu	37	19	11422874	11422874	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11422874C>A	ENST00000316737.1	+	6	813	c.663C>A	c.(661-663)agC>agA	p.S221R	TSPAN16_ENST00000592955.1_Missense_Mutation_p.S196R|TSPAN16_ENST00000590327.1_Missense_Mutation_p.S221R|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	221						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGAGTGGGAGCTCTCTGGGAG	0.483000													4	19					0.00024832	0.000373787	0.000248	1	0
GDPD5	81544	broad.mit.edu	37	11	75150960	75150960	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:75150960G>T	ENST00000526177.1	-	11	2984	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	GDPD5_ENST00000376282.3_Missense_Mutation_p.S388Y|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.S507Y|GDPD5_ENST00000336898.3_Missense_Mutation_p.S507Y|GDPD5_ENST00000533784.1_Missense_Mutation_p.S388Y|GDPD5_ENST00000533805.1_Missense_Mutation_p.S262Y			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	507	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GAGGGTGAAGGAGACCAGGTC	0.627000													18	57					6.49762e-13	1.19123e-12	0.006122	1	0
ATP8B1	5205	broad.mit.edu	37	18	55368510	55368510	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:55368510G>A	ENST00000536015.1	-	5	548	c.429C>T	c.(427-429)acC>acT	p.T143T	ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.T143T	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	143					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCACTAGTGTGGTGTACCAAG	0.458000													23	18					0	0	0.004656	0	0
VEGFC	7424	broad.mit.edu	37	4	177649124	177649124	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177649124T>A	ENST00000280193.2	-	3	777		c.e3-2		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TATCAATACCTGTCAAGTCAT	0.413000													18	45					0	0	0.007413	0	0
PDE3A	5139	broad.mit.edu	37	12	20769241	20769241	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20769241T>C	ENST00000359062.3	+	4	1387	c.1347T>C	c.(1345-1347)ggT>ggC	p.G449G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGGCCACAGGTCTACCCACCT	0.562000													35	82					0	0	0.005524	0	0
ZNF133	7692	broad.mit.edu	37	20	18297420	18297420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18297420C>T	ENST00000377671.3	+	7	2481	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	ZNF133_ENST00000402618.2_Missense_Mutation_p.P579L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.P645L|ZNF133_ENST00000401790.1_Missense_Mutation_p.P642L|ZNF133_ENST00000316358.4_Missense_Mutation_p.P642L|ZNF133_ENST00000535822.1_Missense_Mutation_p.P547L|ZNF133_ENST00000538547.1_Missense_Mutation_p.P547L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	642						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GACCCTGAGCCGTGTGCAGGG	0.537000													23	89					0	0	0.001882	0	0
FABP6	2172	broad.mit.edu	37	5	159659189	159659189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:159659189C>A	ENST00000393980.4	+	5	445	c.299C>A	c.(298-300)tCc>tAc	p.S100Y	FABP6_ENST00000402432.3_Missense_Mutation_p.S51Y|FABP6_ENST00000393982.1_Missense_Mutation_p.S100Y	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	51					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCACTTGGTCCCAGCACTAC	0.562000													9	8					0.000442599	0.000661257	0.006214	1	0
MYH6	4624	broad.mit.edu	37	14	23862578	23862578	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23862578C>A	ENST00000405093.3	-	23	3148	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	MYH6_ENST00000356287.3_Missense_Mutation_p.K1026N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1026					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTTGACCTTAGACTTGG	0.517000													36	145					2.20474e-14	4.14838e-14	0.003755	1	0
ELMO1	9844	broad.mit.edu	37	7	36895281	36895281	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36895281C>A	ENST00000310758.4	-	22	2706	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y	ELMO1_ENST00000442504.1_Missense_Mutation_p.D687Y|ELMO1_ENST00000396040.2_Missense_Mutation_p.D207Y|ELMO1_ENST00000396045.3_Missense_Mutation_p.D207Y|ELMO1_ENST00000341056.3_Missense_Mutation_p.D389Y|ELMO1_ENST00000448602.1_Missense_Mutation_p.D687Y	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	687					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGCAGGGTGTCCAGGTCATTC	0.577000													39	99					2.59497e-14	4.85526e-14	0.007835	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709144	38709144	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:38709144T>C	ENST00000417039.1	-	0	696																											CGCGGGAAGGTCGTGGTGCTG	0.537000													6	68					0	0	0.003080	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104054596	104054596	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:104054596T>G	ENST00000395862.3	+	3	320	c.161T>G	c.(160-162)tTg>tGg	p.L54W	ATP6V1C1_ENST00000521514.1_5'UTR|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L54W	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	54					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTGGTTGGCTTGTCAGATGAA	0.363000													75	45					0	0	0.003610	0	0
DDX58	23586	broad.mit.edu	37	9	32493895	32493895	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:32493895T>G	ENST00000379882.1	-	2	309	c.152A>C	c.(151-153)aAa>aCa	p.K51T	DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000379883.2_Missense_Mutation_p.K96T|DDX58_ENST00000542096.1_Missense_Mutation_p.K25T			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	96	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTTTCAATTTTTTTGAAATC	0.294000													19	5					0	0	0.001216	0	0
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:201846100G>T	ENST00000418596.2	-	12	1673	c.1486C>A	c.(1486-1488)Cgg>Agg	p.R496R	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	496						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512000													4	45					0.00024832	0.000373787	0.000248	1	0
SALL1	6299	broad.mit.edu	37	16	51174936	51174936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:51174936G>T	ENST00000440970.1	-	2	1337	c.906C>A	c.(904-906)aaC>aaA	p.N302K	SALL1_ENST00000251020.4_Missense_Mutation_p.N399K|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	399					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAAAACCGAGTTAGCGGAGG	0.498000													32	148					1.62565e-12	2.95868e-12	0.002445	1	0
ZFP42	132625	broad.mit.edu	37	4	188924027	188924027	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:188924027C>A	ENST00000326866.4	+	4	474	c.66C>A	c.(64-66)ccC>ccA	p.P22P	ZFP42_ENST00000509524.1_Silent_p.P22P	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	22					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGAGCCCCCAGTGGGGCTA	0.552000													16	88					3.52763e-06	5.56088e-06	0.004990	1	0
ANK3	288	broad.mit.edu	37	10	61830610	61830610	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:61830610T>C	ENST00000280772.1	-	37	10220	c.10029A>G	c.(10027-10029)caA>caG	p.Q3343Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3343					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTTTCTTTTTGTTCATCGT	0.403000													43	85					0	0	0.007835	0	0
SOX8	30812	broad.mit.edu	37	16	1035270	1035270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:1035270C>T	ENST00000293894.3	+	3	1340	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	409					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCTGCTTCCACTCGCCGCG	0.697000													10	40					0	0	0.000978	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801353	185801353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185801353T>A	ENST00000302277.6	+	4	1824	c.1230T>A	c.(1228-1230)acT>acA	p.T410T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTAACATAACTATACATAAGA	0.383000													34	106					0	0	0.003271	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369225	20369225	+	RNA	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:20369225A>C	ENST00000593655.1	-	0	199																											GTGATGAGGCAAGTGAATTAC	0.418000													17	91					0	0	0.004990	0	0
FMO2	2327	broad.mit.edu	37	1	171168602	171168602	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171168602T>G	ENST00000441535.1	+	5	719	c.602T>G	c.(601-603)gTt>gGt	p.V201G	FMO2_ENST00000209929.7_Missense_Mutation_p.V201G|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	201					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATTGCTGTTGAGCTGAGT	0.498000													15	89					0	0	0.004990	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899255	56899255	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899255C>T	ENST00000438926.2	+	1	137	c.108C>T	c.(106-108)gcC>gcT	p.A36A	SLC12A3_ENST00000563236.1_Silent_p.A36A|SLC12A3_ENST00000566786.1_Silent_p.A36A|SLC12A3_ENST00000262502.5_Silent_p.A36A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	36					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CACCAGCTGCCTATGACAGCA	0.597000													35	162					0	0	0.005524	0	0
KIF20B	9585	broad.mit.edu	37	10	91497825	91497825	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:91497825A>C	ENST00000416354.1	+	20	3389	c.3317A>C	c.(3316-3318)cAt>cCt	p.H1106P	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.H1036P|KIF20B_ENST00000394289.2_Missense_Mutation_p.H1076P|KIF20B_ENST00000371728.3_Missense_Mutation_p.H1076P			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1076					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAGTCATCAGATTGAG	0.358000													19	45					0	0	0.007413	0	0
NMI	9111	broad.mit.edu	37	2	152138463	152138463	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:152138463T>C	ENST00000243346.5	-	3	646	c.177_splice	c.e3+1	p.Q59_splice		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	59					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGAGAGTACCTGGAATTCTTT	0.284000													14	53					0	0	0.001855	0	0
FBLN7	129804	broad.mit.edu	37	2	112942839	112942839	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:112942839C>T	ENST00000331203.2	+	7	1141	c.870C>T	c.(868-870)acC>acT	p.T290T	FBLN7_ENST00000409667.3_Silent_p.T156T|FBLN7_ENST00000409450.3_Silent_p.T244T|FBLN7_ENST00000409903.1_Silent_p.T290T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	290	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.T290T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCATCAACACCGGTGGAAGCT	0.582000													20	89					0	0	0.007413	0	0
PREX1	57580	broad.mit.edu	37	20	47246080	47246080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:47246080C>T	ENST00000371941.3	-	37	4695	c.4673G>A	c.(4672-4674)gGg>gAg	p.G1558E	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1558					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCACACTCCCAGCAGCACC	0.622000													26	108					0	0	0.004656	0	0
IGSF5	150084	broad.mit.edu	37	21	41142930	41142930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:41142930C>A	ENST00000380588.4	+	4	609	c.506C>A	c.(505-507)aCc>aAc	p.T169N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	169	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCACACTGGACCCGGCTCCCG	0.483000													31	20					3.99451e-17	7.74904e-17	0.001786	1	0
FGR	2268	broad.mit.edu	37	1	27949593	27949593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:27949593T>A	ENST00000374005.3	-	4	577	c.289A>T	c.(289-291)Acc>Tcc	p.T97S	FGR_ENST00000399173.1_Missense_Mutation_p.T97S|FGR_ENST00000374004.1_Missense_Mutation_p.T97S|FGR_ENST00000545953.1_Missense_Mutation_p.T97S	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	97	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGTGAAGGTGAGGTCATCC	0.557000													16	60					0	0	0.003163	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509197	110509197	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:110509197T>A	ENST00000378402.5	+	64	10481	c.10377T>A	c.(10375-10377)ggT>ggA	p.G3459G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3459					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCATGGAGGTTTATATGGGA	0.388000										HNSCC(38;0.096)			38	93					0	0	0.006230	0	0
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20871907T>A	ENST00000262715.5	-	6	1209	c.1169A>T	c.(1168-1170)cAc>cTc	p.H390L	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627000													37	79					0	0	0.006999	0	0
PCED1B	91523	broad.mit.edu	37	12	47629873	47629873	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:47629873T>C	ENST00000546455.1	+	4	1758	c.1027T>C	c.(1027-1029)Tcc>Ccc	p.S343P	PCED1B_ENST00000432328.1_Missense_Mutation_p.S343P					PC-esterase domain containing 1B																		TGCCTGTTTTTCCTCAGACCA	0.547000													13	207					0	0	0.001368	0	0
COL22A1	169044	broad.mit.edu	37	8	139824102	139824102	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:139824102T>A	ENST00000303045.6	-	9	1835	c.1389A>T	c.(1387-1389)ccA>ccT	p.P463P	COL22A1_ENST00000435777.1_Silent_p.P463P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	463	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTCACTGCCTGGGGTGGGAG	0.602000										HNSCC(7;0.00092)			8	30					0	0	0.003080	0	0
NDST3	9348	broad.mit.edu	37	4	118975575	118975575	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975575G>T	ENST00000296499.5	+	2	913	c.510G>T	c.(508-510)aaG>aaT	p.K170N	NDST3_ENST00000433996.2_Missense_Mutation_p.K170N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	170	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTAGTGAGAAGAGTGTACAGA	0.348000													23	36					1.10923e-09	1.91109e-09	0.002780	1	0
IK	3550	broad.mit.edu	37	5	140033549	140033549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140033549G>A	ENST00000417647.2	+	6	570	c.431G>A	c.(430-432)aGa>aAa	p.R144K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	144					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAGAAGACAGTTGATC	0.478000													14	9					0	0	0.001855	0	0
PLAA	9373	broad.mit.edu	37	9	26925866	26925866	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:26925866A>G	ENST00000397292.3	-	6	1243	c.826T>C	c.(826-828)Tgc>Cgc	p.C276R	PLAA_ENST00000520884.1_Missense_Mutation_p.C276R	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	276					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACACAGCAGCACCATATAGAC	0.418000													21	13					0	0	0.003954	0	0
DHRS2	10202	broad.mit.edu	37	14	24108190	24108190	+	Silent	SNP	C	C	A	rs146713514	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24108190C>A	ENST00000250383.6	+	2	593	c.117C>A	c.(115-117)gcC>gcA	p.A39A	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.A39A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	17					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACCGGGTAGCCGTGGTCACGG	0.612000													50	84					4.25531e-23	8.58784e-23	0.003610	1	0
RHBDD1	84236	broad.mit.edu	37	2	227731999	227731999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:227731999G>T	ENST00000392062.2	+	5	1055	c.531G>T	c.(529-531)tgG>tgT	p.W177C	RHBDD1_ENST00000341329.3_Missense_Mutation_p.W177C	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	177						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGCTTGTTGGGTCGAACTTG	0.398000													80	79					9.11151e-29	1.88833e-28	0.003610	1	0
COL3A1	1281	broad.mit.edu	37	2	189868759	189868759	+	Missense_Mutation	SNP	C	C	A	rs112640146		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:189868759C>A	ENST00000304636.3	+	39	2883	c.2713C>A	c.(2713-2715)Cca>Aca	p.P905T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	905	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATGGGCCCCCAGGTCCTGC	0.527000													6	27					0.00116845	0.00173533	0.001168	1	0
CDH4	1002	broad.mit.edu	37	20	60511804	60511804	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60511804G>T	ENST00000360469.5	+	16	2642	c.2554G>T	c.(2554-2556)Gct>Tct	p.A852S	CDH4_ENST00000543233.1_Missense_Mutation_p.A778S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	852					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACTCCGCGCTGCTGACAA	0.642000													8	43					5.18039e-06	8.14062e-06	0.003080	1	0
PLEC	5339	broad.mit.edu	37	8	144996134	144996134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:144996134G>T	ENST00000322810.4	-	32	8435	c.8266C>A	c.(8266-8268)Cag>Aag	p.Q2756K	PLEC_ENST00000357649.2_Missense_Mutation_p.Q2623K|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2646K|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2605K|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2642K|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2597K|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2587K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2756	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCCACCTGCGAGGCAGTG	0.682000													20	34					3.51602e-12	6.33009e-12	0.001216	1	0
LRIF1	55791	broad.mit.edu	37	1	111492660	111492660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:111492660G>T	ENST00000369763.4	-	3	2072	c.1682C>A	c.(1681-1683)gCa>gAa	p.A561E	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.A25E|LRIF1_ENST00000485275.2_Missense_Mutation_p.A25E	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGATGTAATGCCTTATTACT	0.378000													13	24					5.50884e-06	8.64318e-06	0.001368	1	0
TRAV25	28658	broad.mit.edu	37	14	22580396	22580396	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:22580396G>A	ENST00000390454.2	+	0	97																											TCACATCAATGTTGGTCTTAT	0.448000													26	73					0	0	0.005443	0	0
ZNF616	90317	broad.mit.edu	37	19	52619407	52619407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:52619407C>A	ENST00000600228.1	-	4	1271	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAGGTTTGAGCTCCGTTTAAA	0.398000													32	120					6.50621e-10	1.12872e-09	0.002836	1	0
GABRP	2568	broad.mit.edu	37	5	170239158	170239158	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:170239158A>G	ENST00000518525.1	+	11	1683	c.1219A>G	c.(1219-1221)Aca>Gca	p.T407A	GABRP_ENST00000265294.4_Missense_Mutation_p.T407A|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	407						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGATTATTTCACAATTCAAAA	0.373000													13	33					0	0	0.001855	0	0
ABHD17C	58489	broad.mit.edu	37	15	80988172	80988172	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:80988172G>T	ENST00000258884.4	+	1	529	c.402G>T	c.(400-402)acG>acT	p.T134T	ABHD17C_ENST00000558464.1_Silent_p.T134T|ABHD17C_ENST00000560609.1_Intron	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		GCCGCTACACGCTGCTCTTCT	0.652000													5	9					0.000602214	0.000897049	0.000602	1	0
TFAP2B	7021	broad.mit.edu	37	6	50803949	50803949	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:50803949C>G	ENST00000263046.4	+	5	970	c.804C>G	c.(802-804)ccC>ccG	p.P268P	TFAP2B_ENST00000393655.3_Silent_p.P259P			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	259					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCTGTCGCCCCCTGAATGCC	0.498000													25	26					0	0	0.002780	0	0
MKL1	57591	broad.mit.edu	37	22	40815102	40815102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40815102G>A	ENST00000396617.3	-	12	1930	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	MKL1_ENST00000402042.1_Missense_Mutation_p.T397M|MKL1_ENST00000355630.3_Missense_Mutation_p.T447M|MKL1_ENST00000407029.1_Missense_Mutation_p.T447M			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	447					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.T447M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGTGGAGCCCGTGCTGCCAAA	0.692000			T	RBM15	acute megakaryocytic leukemia								9	14					0	0	0.004482	0	0
BAGE2	85319	broad.mit.edu	37	21	11058282	11058282	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:11058282G>A	ENST00000470054.1	-	0	365									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403000													5	140					0	0	0.001168	0	0
SNORD113-4	767564	broad.mit.edu	37	14	101402830	101402830	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:101402830G>A	ENST00000364802.1	+	0	3					NR_003232.1																						AACGTGCTTGGACCAATGATG	0.323000													24	63					0	0	0.003330	0	0
PCDH20	64881	broad.mit.edu	37	13	61987508	61987508	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:61987508T>C	ENST00000409186.1	-	5	2829	c.724A>G	c.(724-726)Aat>Gat	p.N242D	PCDH20_ENST00000409204.4_Missense_Mutation_p.N242D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	215	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTACCCCATTAATGCCTACA	0.532000													50	45					0	0	0.003610	0	0
RNASE4	6038	broad.mit.edu	37	14	21167532	21167532	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:21167532T>A	ENST00000555835.1	+	2	678	c.2T>A	c.(1-3)aTg>aAg	p.M1K	RNASE4_ENST00000397995.2_Start_Codon_SNP_p.M1K|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000304704.4_Start_Codon_SNP_p.M1K|RNASE4_ENST00000555597.1_Start_Codon_SNP_p.M1K|AL163636.6_ENST00000553909.1_RNA	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	1					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAGATACTGATGGCTCTGCAG	0.532000													32	100					0	0	0.001786	0	0
GABRR2	2570	broad.mit.edu	37	6	89975369	89975369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:89975369C>A	ENST00000402938.3	-	7	985	c.852G>T	c.(850-852)tgG>tgT	p.W284C	GABRR2_ENST00000602399.1_Missense_Mutation_p.W309C			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	309					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGCGGTCGATCCAGAAGGACA	0.453000													22	37					4.4004e-07	7.18565e-07	0.003330	1	0
NLRP3	114548	broad.mit.edu	37	1	247587342	247587342	+	Silent	SNP	C	C	T	rs3806267		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247587342C>T	ENST00000366497.2	+	4	1377	c.597C>T	c.(595-597)ccC>ccT	p.P199P	NLRP3_ENST00000391828.3_Silent_p.P199P|NLRP3_ENST00000336119.3_Silent_p.P199P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.P199P|NLRP3_ENST00000391827.2_Silent_p.P199P|NLRP3_ENST00000348069.2_Silent_p.P199P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	199					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGCCCCGTGAGTCCCA	0.582000													21	26					0	0	0.001216	0	0
COL14A1	7373	broad.mit.edu	37	8	121290348	121290348	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121290348A>T	ENST00000297848.3	+	27	3483		c.e27-1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTCTCTCCAGGTTGCAATG	0.373000													28	126					0	0	0.001786	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672100	39672100	+	Missense_Mutation	SNP	A	A	T	rs143222338	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:39672100A>T	ENST00000398930.1	+	4	1271	c.917A>T	c.(916-918)tAc>tTc	p.Y306F	KCNJ15_ENST00000398934.1_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Y306F|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Y306F			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	306					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GAGGAAATCTACTGGGGTTTT	0.468000													23	13					0	0	0.002780	0	0
HAS3	3038	broad.mit.edu	37	16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:69148385G>C	ENST00000306560.1	+	4	1034	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.S293T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	293					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597000													26	87					0	0	0.005443	0	0
EYS	346007	broad.mit.edu	37	6	66044978	66044978	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:66044978C>G	ENST00000503581.1	-	11	2198	c.1661G>C	c.(1660-1662)tGt>tCt	p.C554S	EYS_ENST00000393380.2_Missense_Mutation_p.C554S|EYS_ENST00000370621.3_Missense_Mutation_p.C554S|EYS_ENST00000342421.5_Missense_Mutation_p.C554S|EYS_ENST00000370618.3_Missense_Mutation_p.C554S|EYS_ENST00000370616.2_Missense_Mutation_p.C554S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	554					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTGAGAAAACATAGATACCG	0.348000													14	33					0	0	0.001855	0	0
TGM4	7047	broad.mit.edu	37	3	44952882	44952882	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:44952882C>A	ENST00000296125.4	+	13	1965	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	633					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCCTCACTACAGACCTCTGA	0.458000													29	69					1.80694e-10	3.17325e-10	0.001786	1	0
SLC22A1	6580	broad.mit.edu	37	6	160557345	160557345	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:160557345G>A	ENST00000366963.4	+	5	1080	c.933G>A	c.(931-933)aaG>aaA	p.K311K	SLC22A1_ENST00000324965.4_Silent_p.K311K|SLC22A1_ENST00000457470.2_Silent_p.K311K	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	311						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGAATGGGAAGTTGCCTCCTG	0.498000													22	40					0	0	0.002299	0	0
AQP9	366	broad.mit.edu	37	15	58458911	58458911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:58458911C>T	ENST00000219919.4	+	2	521	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AQP9_ENST00000536493.1_Nonsense_Mutation_p.R51*|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_5'UTR	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	51					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.R51*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATTCTCAGTCGAGGACGTTT	0.468000													51	186					0	0	0.003610	0	0
OR4C12	283093	broad.mit.edu	37	11	50003578	50003578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:50003578C>T	ENST00000335238.4	-	1	493	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAATAGTTGCATGAAGAAAT	0.478000													42	162					0	0	0.003214	0	0
LRP1B	53353	broad.mit.edu	37	2	141458106	141458106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:141458106G>T	ENST00000389484.3	-	41	7483	c.6512C>A	c.(6511-6513)gCc>gAc	p.A2171D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2171	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCCATGGGCACAAGCACA	0.408000										TSP Lung(27;0.18)			14	91					2.62699e-14	4.906e-14	0.003163	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119236160	119236160	+	Silent	SNP	G	G	A	rs150396264	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:119236160G>A	ENST00000494664.1	+	6	907	c.705G>A	c.(703-705)gaG>gaA	p.E235E	TIMMDC1_ENST00000493694.1_Silent_p.E101E	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	235						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						AACTGGAAGAGTGGTAAGGAA	0.458000													90	73					0	0	0.003610	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	86					0	0	0.001368	0	0
GLYR1	84656	broad.mit.edu	37	16	4861228	4861228	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:4861228G>T	ENST00000321919.9	-	15	1606	c.1530C>A	c.(1528-1530)gcC>gcA	p.A510A	GLYR1_ENST00000591451.1_Silent_p.A504A|GLYR1_ENST00000436648.5_Silent_p.A429A|GLYR1_ENST00000381983.3_Silent_p.A493A	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	510					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCAGCGCAATGGCTAAGCGGA	0.498000													35	119					4.62619e-21	9.24315e-21	0.004289	1	0
ALG12	79087	broad.mit.edu	37	22	50307385	50307385	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:50307385C>A	ENST00000330817.5	-	2	302	c.29G>T	c.(28-30)cGg>cTg	p.R10L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	10					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGGGGCCGCCTGCCTGA	0.602000													36	114					1.30998e-17	2.57116e-17	0.005524	1	0
BDP1	55814	broad.mit.edu	37	5	70835391	70835391	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:70835391T>C	ENST00000358731.4	+	28	6200	c.5937T>C	c.(5935-5937)aaT>aaC	p.N1979N	BDP1_ENST00000380675.2_Silent_p.N116N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1979					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTACCAATGATGGAAGCA	0.348000													10	23					0	0	0.006214	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784840	90784840	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:90784840C>A	ENST00000558017.1	+	4	1120	c.700C>A	c.(700-702)Cca>Aca	p.P234T	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P234T	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	234					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GGAGCAGGCGCCAAGCGAGCC	0.632000													20	64					2.37509e-13	4.37839e-13	0.001523	1	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	99					0	0	0.000248	0	0
LDB2	9079	broad.mit.edu	37	4	16513685	16513685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:16513685G>A	ENST00000502640.1	-	6	806	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	LDB2_ENST00000304523.5_Missense_Mutation_p.H220Y|LDB2_ENST00000441778.2_Missense_Mutation_p.H220Y|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.H220Y|LDB2_ENST00000503178.2_Missense_Mutation_p.H96Y			O43679	LDB2_HUMAN	LIM domain binding 2	220							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TAAGTTTTATGTCTCGACATC	0.443000													16	24					0	0	0.004007	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677790	3677790	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3677790G>A	ENST00000344754.4	-	9	2321	c.2322C>T	c.(2320-2322)tgC>tgT	p.C774C	SIGLEC1_ENST00000202578.4_Silent_p.C774C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	774	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCAGGATGCGGCAGGCGTAAA	0.637000													23	62					0	0	0.003330	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95668588	95668588	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:95668588G>T	ENST00000324972.6	+	14	1608		c.e14-1		DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000359388.4_Splice_Site|DYNC1I1_ENST00000497626.1_Splice_Site|DYNC1I1_ENST00000457059.1_Splice_Site|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000537881.1_Splice_Site	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTCCTACAGCAAAGCAGGT	0.448000													33	161					2.49991e-28	5.17028e-28	0.003271	1	0
VPS11	55823	broad.mit.edu	37	11	118944567	118944567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118944567C>G	ENST00000300793.6	+	8	1183	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	382					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GAGCCAGCATCTGGACAGTGA	0.478000													7	24					0	0	0.003080	0	0
C12orf74	338809	broad.mit.edu	37	12	93101490	93101490	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:93101490G>T	ENST00000397833.3	+	3	1023	c.572G>T	c.(571-573)tGa>tTa	p.*191L	C12orf74_ENST00000544406.2_3'UTR	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	0										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GACATCTGTTGACTATTTACT	0.363000													6	32					0.00198382	0.00293324	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179578835	179578835	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179578835C>T	ENST00000589042.1	-	92	26774	c.26550G>A	c.(26548-26550)gaG>gaA	p.E8850E	TTN_ENST00000342992.6_Silent_p.E7606E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E8533E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8533	Ig-like 71.			A -> P (in Ref. 1; CAA62189).			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)			CTACTGTACACTCCAAGGTAC	0.388000													8	36					0	0	0.004482	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283417	126283417	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:126283417G>C	ENST00000526727.1	+	9	1163	c.789G>C	c.(787-789)ctG>ctC	p.L263L	ST3GAL4_ENST00000392669.2_Silent_p.L263L|ST3GAL4_ENST00000356132.4_Silent_p.L269L|ST3GAL4_ENST00000534457.1_Silent_p.L258L|ST3GAL4_ENST00000227495.6_Silent_p.L259L|ST3GAL4_ENST00000530591.1_Silent_p.L259L|ST3GAL4_ENST00000534083.1_Silent_p.L263L|ST3GAL4_ENST00000449406.2_Silent_p.L252L|ST3GAL4_ENST00000532243.1_Silent_p.L262L|ST3GAL4_ENST00000444328.2_Silent_p.L263L			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	263					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CCACGGGCCTGTTGGCCATCA	0.592000													13	27					0	0	0.001368	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727933	20727933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:20727933T>A	ENST00000427401.4	-	4	1170	c.1076A>T	c.(1075-1077)cAc>cTc	p.H359L		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTATCTTGTGTGTAGTAAG	0.388000													20	73					0	0	0.001216	0	0
CNGA2	1260	broad.mit.edu	37	X	150912139	150912139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:150912139G>T	ENST00000329903.4	+	6	1197	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	388					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGCTAAGATCGATGCCG	0.502000													17	77					1.5739e-10	2.76884e-10	0.004007	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475671	140475671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140475671C>A	ENST00000194155.4	+	1	1445	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		433	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCCAGGCTGAAAACCGA	0.557000													79	51					3.00167e-28	6.1952e-28	0.003610	1	0
CCDC170	80129	broad.mit.edu	37	6	151917620	151917620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:151917620A>C	ENST00000367290.5	+	9	1707	c.1618A>C	c.(1618-1620)Aag>Cag	p.K540Q	CCDC170_ENST00000239374.7_Missense_Mutation_p.K540Q			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	540																	GAACTTGCAGAAGAAGGTGGA	0.562000													21	74					0	0	0.001216	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890840	23890840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:23890840G>A	ENST00000532292.1	-	1	335	c.241C>T	c.(241-243)Cct>Tct	p.P81S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCAGGAAGGCTGGAGCGGC	0.667000													6	9					0	0	0.001168	0	0
LRP2	4036	broad.mit.edu	37	2	170028586	170028586	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:170028586A>G	ENST00000263816.3	-	58	11487	c.11202T>C	c.(11200-11202)ccT>ccC	p.P3734P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3734	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCCAACGAAGAGGGATGCAGT	0.473000													41	45					0	0	0.006999	0	0
MARCH1	55016	broad.mit.edu	37	4	164534561	164534561	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:164534561A>G	ENST00000339875.5	-	1	125	c.96T>C	c.(94-96)tcT>tcC	p.S32S	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	49	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAACAAGTTAGATAATTTGG	0.438000													49	35					0	0	0.003610	0	0
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463000													117	264					0	0	0.003610	0	0
NDST3	9348	broad.mit.edu	37	4	118975167	118975167	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975167C>T	ENST00000296499.5	+	2	505	c.102C>T	c.(100-102)taC>taT	p.Y34Y	NDST3_ENST00000433996.2_Silent_p.Y34Y	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	34						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACTACCTGTACAGTGGCTACA	0.413000													23	94					0	0	0.003330	0	0
ANK2	287	broad.mit.edu	37	4	114278239	114278239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:114278239C>T	ENST00000357077.4	+	38	8518	c.8465C>T	c.(8464-8466)aCa>aTa	p.T2822I	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2789I|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2789					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAAGACACAGAGGGAGAA	0.438000													62	51					0	0	0.003610	0	0
BOLL	66037	broad.mit.edu	37	2	198646475	198646475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198646475G>A	ENST00000321801.7	-	2	706	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000433157.1_Missense_Mutation_p.R34C|BOLL_ENST00000430004.1_Missense_Mutation_p.R34C|BOLL_ENST00000392296.4_Missense_Mutation_p.R34C	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	34	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACAAAGATGCGATTAGGGATC	0.363000													27	98					0	0	0.001512	0	0
KIF21A	55605	broad.mit.edu	37	12	39724658	39724658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39724658T>G	ENST00000395670.3	-	23	3628	c.3209A>C	c.(3208-3210)aAa>aCa	p.K1070T	KIF21A_ENST00000361961.3_Missense_Mutation_p.K1057T|KIF21A_ENST00000361418.5_Missense_Mutation_p.K1070T|KIF21A_ENST00000544797.2_Missense_Mutation_p.K1057T|KIF21A_ENST00000541463.2_Missense_Mutation_p.K1034T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1070					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGTTTGTTTGAGTCGACC	0.403000													14	55					0	0	0.002450	0	0
PRTG	283659	broad.mit.edu	37	15	55965629	55965629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:55965629C>T	ENST00000389286.4	-	10	1839	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	598	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTCCCAGCCCCACTCTGGTG	0.488000													18	70					0	0	0.006122	0	0
AFF3	3899	broad.mit.edu	37	2	100199351	100199351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:100199351C>A	ENST00000317233.4	-	16	2937	c.2702G>T	c.(2701-2703)cGa>cTa	p.R901L	AFF3_ENST00000356421.2_Missense_Mutation_p.R926L|AFF3_ENST00000409236.1_Missense_Mutation_p.R901L|AFF3_ENST00000409579.1_Missense_Mutation_p.R926L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	901					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCATTAGGTCGGCTGGAAGA	0.483000													29	42					7.38237e-10	1.2763e-09	0.006320	1	0
SEL1L2	80343	broad.mit.edu	37	20	13840045	13840045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13840045G>T	ENST00000284951.5	-	18	1755	c.1681C>A	c.(1681-1683)Cat>Aat	p.H561N	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	561						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATAGTAATGGTAATCTCCA	0.368000													6	39					8.12818e-05	0.000123652	0.001984	1	0
WBSCR17	64409	broad.mit.edu	37	7	70853353	70853353	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:70853353G>A	ENST00000333538.5	+	3	1189	c.555G>A	c.(553-555)aaG>aaA	p.K185K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	185	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCTGAAGGAAATCATTC	0.542000													17	27					0	0	0.007413	0	0
ZNF462	58499	broad.mit.edu	37	9	109687822	109687822	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109687822G>C	ENST00000277225.5	+	3	1918	c.1629G>C	c.(1627-1629)ccG>ccC	p.P543P	ZNF462_ENST00000457913.1_Silent_p.P543P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	543					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGccaccgcagccaccac	0.592000													5	32					0	0	0.003080	0	0
LAMB1	3912	broad.mit.edu	37	7	107599899	107599899	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:107599899C>A	ENST00000393561.1	-	18	2741	c.2557G>T	c.(2557-2559)Gtc>Ttc	p.V853F	LAMB1_ENST00000222399.6_Missense_Mutation_p.V829F			P07942	LAMB1_HUMAN	laminin, beta 1	829	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGCATTGACAGATCCTTGC	0.507000													17	59					1.67942e-08	2.8112e-08	0.006122	1	0
JAG1	182	broad.mit.edu	37	20	10653648	10653648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:10653648C>A	ENST00000254958.5	-	2	603	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	30					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCGAGGCCCCACACACCTGC	0.647000									Alagille Syndrome				9	61					3.86212e-05	5.91129e-05	0.000673	1	0
ATP5L2	267020	broad.mit.edu	37	22	43036197	43036197	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:43036197G>A	ENST00000505920.1	-	1	410	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	28					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						ACCAAAATGCGGCCAATCGAG	0.507000													4	20					0	0	0.000248	0	0
INPP5D	3635	broad.mit.edu	37	2	234112790	234112790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234112790G>C	ENST00000359570.5	+	28	2958	c.2958G>C	c.(2956-2958)aaG>aaC	p.986_986insN	INPP5D_ENST00000455936.2_Missense_Mutation_p.750_750insN|INPP5D_ENST00000450745.1_Missense_Mutation_p.750_750insN			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCTGGGGAAGAACGCAGGGG	0.597000													4	11					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179612696	179612696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179612696C>A	ENST00000360870.5	-	46	14653	c.14431G>T	c.(14431-14433)Gac>Tac	p.D4811Y	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	921	Ig-like 28.						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)			CCTCTGTGGTCTTCCAAAGTG	0.483000													9	52					0.000274275	0.000411002	0.004482	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142231843	142231843	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142231843T>C	ENST00000390364.3	-	0	141																											TCTTGGGCTCTGGGTGATTTC	0.502000													25	104					0	0	0.004656	0	0
MAP3K1	4214	broad.mit.edu	37	5	56168720	56168720	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:56168720A>T	ENST00000399503.3	+	9	1574	c.1574A>T	c.(1573-1575)cAg>cTg	p.Q525L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	525					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCGTACAGCAGCAGCCTTTG	0.433000													20	17					0	0	0.001523	0	0
ACAP1	9744	broad.mit.edu	37	17	7239939	7239939	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:7239939A>T	ENST00000158762.3	+	0	92					NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1						intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TTCCCCGCGGAGGTCCCTCTC	0.677000													8	13					0	0	0.003080	0	0
DSP	1832	broad.mit.edu	37	6	7583613	7583613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:7583613A>G	ENST00000379802.3	+	24	6459	c.6118A>G	c.(6118-6120)Atc>Gtc	p.I2040V	DSP_ENST00000418664.2_Missense_Mutation_p.I1441V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2040	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAATTAATCAGCCCAGA	0.488000													40	41					0	0	0.006999	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917998	56917998	+	Silent	SNP	G	G	T	rs138625602		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56917998G>T	ENST00000438926.2	+	14	1736	c.1707G>T	c.(1705-1707)gcG>gcT	p.A569A	SLC12A3_ENST00000563236.1_Silent_p.A569A|SLC12A3_ENST00000566786.1_Silent_p.A568A|SLC12A3_ENST00000262502.5_Silent_p.A568A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	569			A -> E (in GS).|A -> V (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACAAGTGGGCGGCGCTGTTTG	0.592000													10	83					1.08611e-07	1.78521e-07	0.000978	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590088	140590088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140590088G>T	ENST00000239450.2	+	1	1798	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G200C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G537S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCACGGCTCCCCGGC	0.677000													49	29					5.34276e-22	1.07176e-21	0.003610	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65349325	65349325	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:65349325G>C	ENST00000284037.5	+	21	2568	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D723H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D727H	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	727					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATAAAAAAGATTTTAACTT	0.308000													22	67					0	0	0.002299	0	0
MYC	4609	broad.mit.edu	37	8	128753114	128753114	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:128753114G>A	ENST00000377970.2	+	3	1785	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	MYC_ENST00000524013.1_Silent_p.E424E	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	410	Leucine-zipper.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCAGAGGAGCAAAAGCTCA	0.458000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								42	282					0	0	0.006999	0	0
MFN1	55669	broad.mit.edu	37	3	179107824	179107824	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:179107824A>T	ENST00000471841.1	+	17	2171	c.2045A>T	c.(2044-2046)cAa>cTa	p.Q682L	MFN1_ENST00000280653.7_Missense_Mutation_p.Q571L|MFN1_ENST00000263969.5_Missense_Mutation_p.Q682L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	682					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCCTGTGCCAACAAGTTGAT	0.308000													15	80					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9062568	9062568	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9062568G>T	ENST00000397910.4	-	3	25081	c.24878C>A	c.(24877-24879)tCt>tAt	p.S8293Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8295	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGGAAGAGAAGCGGAAGG	0.512000													16	79					1.3612e-06	2.16969e-06	0.003163	1	0
CRYBB3	1417	broad.mit.edu	37	22	25601255	25601255	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:25601255G>A	ENST00000215855.2	+	5	476	c.396G>A	c.(394-396)gtG>gtA	p.V132V	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	132	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TGGAGATAGTGGATGATGACG	0.582000													18	37					0	0	0.006122	0	0
TFRC	7037	broad.mit.edu	37	3	195782076	195782076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:195782076C>T	ENST00000360110.4	-	17	1943	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	TFRC_ENST00000392396.3_Missense_Mutation_p.E592K|TFRC_ENST00000535031.1_Missense_Mutation_p.E310K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.E511K	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	592	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAGCGACCTCTGCAGCTGCT	0.458000			T	BCL6	NHL								45	200					0	0	0.002522	0	0
COL12A1	1303	broad.mit.edu	37	6	75843070	75843070	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:75843070C>A	ENST00000322507.8	-	34	6042	c.5733G>T	c.(5731-5733)gtG>gtT	p.V1911V	COL12A1_ENST00000416123.2_Silent_p.V1911V|COL12A1_ENST00000483888.2_Silent_p.V1911V|COL12A1_ENST00000345356.6_Silent_p.V747V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1911	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAACTACAGTCACAGTGTATG	0.378000													13	44					2.31682e-05	3.5734e-05	0.003163	1	0
RGS9	8787	broad.mit.edu	37	17	63133680	63133680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:63133680C>A	ENST00000449996.3	+	1	94	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	RGS9_ENST00000262406.9_Missense_Mutation_p.Q8K|RGS9_ENST00000443584.3_Missense_Mutation_p.Q8K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	8					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACACCAAGGCCAGCAGTACAG	0.617000													18	43					4.63292e-17	8.97013e-17	0.001216	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105950303	105950303	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105950303C>G	ENST00000278618.4	+	2	515	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	98					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCAAAGGACTCATCGAATCCT	0.388000													14	42					0	0	0.003163	0	0
MDGA2	161357	broad.mit.edu	37	14	47504488	47504488	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:47504488A>T	ENST00000426342.1	-	8	1397	c.651T>A	c.(649-651)gtT>gtA	p.V217V	MDGA2_ENST00000357362.3_Silent_p.V217V|MDGA2_ENST00000439988.2_Silent_p.V446V|MDGA2_ENST00000399232.2_Silent_p.V515V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	446	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCCTGTGGAACAGTCAGAT	0.373000													41	56					0	0	0.002522	0	0
IL12RB1	3594	broad.mit.edu	37	19	18179338	18179338	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18179338T>A	ENST00000600835.1	-	12	1493		c.e12-2		IL12RB1_ENST00000430026.2_Splice_Site|IL12RB1_ENST00000593993.1_Splice_Site			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTAGGTTGCTGGAAGGATAA	0.537000													33	197					0	0	0.004878	0	0
RAB11B	9230	broad.mit.edu	37	19	8464858	8464858	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:8464858G>T	ENST00000328024.6	+	2	370	c.152G>T	c.(151-153)cGc>cTc	p.R51L	RAB11B_ENST00000594216.1_Missense_Mutation_p.R51L|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	51					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TTCGCCACCCGCAGCATCCAG	0.662000													16	42					1.5739e-10	2.76884e-10	0.004007	1	0
INPP4A	3631	broad.mit.edu	37	2	99155434	99155434	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:99155434G>A	ENST00000074304.5	+	9	1053	c.660G>A	c.(658-660)ttG>ttA	p.L220L	INPP4A_ENST00000409540.3_Silent_p.L220L|INPP4A_ENST00000409016.3_Silent_p.L220L|INPP4A_ENST00000409851.3_Silent_p.L220L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.L220L|INPP4A_ENST00000523221.1_Silent_p.L220L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGGACACTTTGCTGAAATCGG	0.488000													7	9					0	0	0.001984	0	0
OR51B5	282763	broad.mit.edu	37	11	5364185	5364185	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5364185G>T	ENST00000300773.2	-	1	624	c.570C>A	c.(568-570)acC>acA	p.T190T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAGGTGGTATCAGCAC	0.428000													48	71					2.59344e-38	5.44243e-38	0.003610	1	0
VIPR2	7434	broad.mit.edu	37	7	158835786	158835786	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:158835786C>A	ENST00000262178.2	-	6	722	c.537G>T	c.(535-537)aaG>aaT	p.K179N	VIPR2_ENST00000402066.1_Missense_Mutation_p.K320N|VIPR2_ENST00000377633.3_Missense_Mutation_p.K163N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	179					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GAACGTCGTCCTTGACCAGCA	0.587000													13	40					0.000151284	0.000229101	0.001855	1	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000													3	122					0	0	0.000248	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048102	58048102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:58048102G>A	ENST00000556826.1	-	4	873	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	SLC35F4_ENST00000339762.6_Missense_Mutation_p.L249F|SLC35F4_ENST00000554729.1_Missense_Mutation_p.L90F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTTTAAGAAAGAGTTTC	0.413000													6	30					0	0	0.001984	0	0
BCL11B	64919	broad.mit.edu	37	14	99641175	99641175	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:99641175G>A	ENST00000345514.2	-	3	2051	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	BCL11B_ENST00000443726.2_Silent_p.P472P|BCL11B_ENST00000357195.3_Silent_p.P666P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	666	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAAGAGCCCGGGGAAGGGCT	0.796000			T	TLX3	T-ALL								3	11					0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152443676	152443676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152443676G>T	ENST00000367255.5	-	146	26890	c.26289C>A	c.(26287-26289)tgC>tgA	p.C8763*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.C8375*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.C941*|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.C3287*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.C8763*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.C918*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8763	KASH.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTACAAGGCAGGCAAGCC	0.602000										HNSCC(10;0.0054)			14	60					9.31168e-06	1.45413e-05	0.001855	1	0
THSD7A	221981	broad.mit.edu	37	7	11486919	11486919	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11486919G>T	ENST00000423059.3	-	12	2989	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	913	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAAAACTTGGACCAGCTGGT	0.522000										HNSCC(18;0.044)			12	27					7.03913e-09	1.19224e-08	0.001368	1	0
CNTN1	1272	broad.mit.edu	37	12	41418967	41418967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:41418967G>A	ENST00000551295.2	+	21	2656	c.2539G>A	c.(2539-2541)Gcc>Acc	p.A847T	CNTN1_ENST00000348761.2_Missense_Mutation_p.A836T|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.A847T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	847	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTATTGGGCTGCCCATGACAA	0.433000													37	174					0	0	0.004289	0	0
RP1	6101	broad.mit.edu	37	8	55538431	55538431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:55538431G>T	ENST00000220676.1	+	4	2137	c.1989G>T	c.(1987-1989)aaG>aaT	p.K663N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	663			K -> N (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGAAAAGAAGATTTTGTCAT	0.363000													8	33					1.06961e-07	1.7668e-07	0.003080	1	0
BECN1	8678	broad.mit.edu	37	17	40970594	40970594	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:40970594G>C	ENST00000361523.4	-	6	588	c.456C>G	c.(454-456)ctC>ctG	p.L152L	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.L152L	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	152					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGTGACGTTGAGCTGAGTGT	0.512000													14	57					0	0	0.001855	0	0
TG	7038	broad.mit.edu	37	8	134107379	134107379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:134107379T>C	ENST00000220616.4	+	42	7371	c.7331T>C	c.(7330-7332)aTg>aCg	p.M2444T	TG_ENST00000377869.1_Missense_Mutation_p.M2387T|SLA_ENST00000518565.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.M814T|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.M577T|SLA_ENST00000524345.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2444					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTTGCCCCATGTCATCCAGC	0.587000													124	110					0	0	0.003610	0	0
SNAPC4	6621	broad.mit.edu	37	9	139290116	139290116	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:139290116T>A	ENST00000298532.2	-	3	652	c.284A>T	c.(283-285)gAg>gTg	p.E95V		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	95	SNAPC5-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGATGACCTCCTGGTAGAC	0.632000													88	152					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179490067	179490067	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179490067T>C	ENST00000589042.1	-	241	44705	c.44481A>G	c.(44479-44481)ttA>ttG	p.L14827L	TTN_ENST00000342992.6_Silent_p.L12259L|TTN_ENST00000460472.2_Silent_p.L5762L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.L13186L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.L5954L|TTN_ENST00000359218.5_Silent_p.L5887L|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13186	Fibronectin type-III 7.						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)			CAGCATCTTCTAACTTTACAT	0.353000													119	90					0	0	0.003610	0	0
AKAP9	10142	broad.mit.edu	37	7	91631454	91631454	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:91631454T>G	ENST00000359028.2	+	9	2484	c.2259T>G	c.(2257-2259)ctT>ctG	p.L753L	AKAP9_ENST00000358100.2_Silent_p.L753L|AKAP9_ENST00000356239.3_Silent_p.L741L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	753	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGTACACTTGAACAAGAAG	0.294000			T	BRAF	papillary thyroid								10	53					0	0	0.006214	0	0
TNIK	23043	broad.mit.edu	37	3	170789099	170789099	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:170789099C>T	ENST00000436636.2	-	29	3806	c.3462G>A	c.(3460-3462)agG>agA	p.R1154R	TNIK_ENST00000470834.1_Silent_p.R1117R|TNIK_ENST00000357327.5_Silent_p.R1125R|TNIK_ENST00000369326.5_Silent_p.R1132R|TNIK_ENST00000284483.8_Silent_p.R1146R|TNIK_ENST00000538048.1_Silent_p.R1106R|TNIK_ENST00000341852.6_Silent_p.R1070R|TNIK_ENST00000488470.1_Silent_p.R1099R|TNIK_ENST00000475336.1_Silent_p.R1062R|TNIK_ENST00000460047.1_Silent_p.R1091R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1154	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAAATTTGATCCTTTCATATT	0.294000													11	17					0	0	0.000673	0	0
ANGEL1	23357	broad.mit.edu	37	14	77274328	77274328	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:77274328G>A	ENST00000251089.2	-	3	925	c.813C>T	c.(811-813)gaC>gaT	p.D271D		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	271										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AATTGAGGATGTCTGGATGGC	0.498000													6	54					0	0	0.004482	0	0
STRADA	92335	broad.mit.edu	37	17	61781806	61781806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:61781806G>A	ENST00000392950.4	-	9	1157	c.884C>T	c.(883-885)cCc>cTc	p.P295L	STRADA_ENST00000582137.1_Missense_Mutation_p.P303L|STRADA_ENST00000375840.4_Missense_Mutation_p.P274L|STRADA_ENST00000447001.3_Missense_Mutation_p.P288L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000579340.1_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.P332L|STRADA_ENST00000245865.5_3'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	332	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GGAGGGCCGGGGGGTGCTGGT	0.642000													23	22					0	0	0.001882	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973976	69973976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:69973976G>A	ENST00000305231.7	+	5	1292	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	416					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTTAGAGTGGACTTCAACAC	0.433000													38	163					0	0	0.001951	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203779	23203779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:23203779C>A	ENST00000300061.2	+	4	868	c.725C>A	c.(724-726)cCt>cAt	p.P242H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	242					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCACAGGTGCCTCTGGAGAAG	0.498000													19	61					7.07596e-05	0.000107809	0.006122	1	0
ADNP	23394	broad.mit.edu	37	20	49508160	49508160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:49508160T>A	ENST00000396029.3	-	5	3658	c.3091A>T	c.(3091-3093)Agt>Tgt	p.S1031C	ADNP_ENST00000349014.3_Missense_Mutation_p.S1031C|ADNP_ENST00000396032.3_Missense_Mutation_p.S1031C|ADNP_ENST00000371602.4_Missense_Mutation_p.S1031C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1031						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCATAGGAACTATTCTTCCAT	0.458000													31	120					0	0	0.001512	0	0
OR52A1	23538	broad.mit.edu	37	11	5172865	5172865	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5172865A>G	ENST00000380367.1	-	2	1152	c.735T>C	c.(733-735)atT>atC	p.I245I	OR52A1_ENST00000328942.1_Silent_p.I245I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	245					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGAGCAATGCAGGTAT	0.428000													13	43					0	0	0.001855	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357536	67357536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:67357536G>A	ENST00000396623.3	+	6	468	c.437G>A	c.(436-438)tGt>tAt	p.C146Y	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.C98Y|ADHFE1_ENST00000379385.4_Missense_Mutation_p.C146Y	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	146					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATGGACACCTGTAAGGCTGCT	0.478000													35	116					0	0	0.002445	0	0
ITK	3702	broad.mit.edu	37	5	156671418	156671418	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:156671418T>A	ENST00000422843.3	+	13	1531	c.1379T>A	c.(1378-1380)cTg>cAg	p.L460Q	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	460	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGACCCTGCTGGGCATGTGT	0.572000			T	SYK	peripheral T-cell lymphoma								17	25					0	0	0.004007	0	0
VEPH1	79674	broad.mit.edu	37	3	157082158	157082158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157082158C>A	ENST00000362010.2	-	8	1578	c.1271G>T	c.(1270-1272)gGc>gTc	p.G424V	VEPH1_ENST00000543418.1_Missense_Mutation_p.G424V|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.G424V|VEPH1_ENST00000392833.2_Missense_Mutation_p.G424V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	424						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGATAGAGCCAGGGGTATT	0.348000													22	106					7.45023e-12	1.33411e-11	0.001523	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530349	80530349	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:80530349C>A	ENST00000295057.3	-	2	1252	c.596G>T	c.(595-597)aGt>aTt	p.S199I	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S199I|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	199						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGCCAGACTCTTGAGCTG	0.582000										HNSCC(69;0.2)			33	88					3.90053e-15	7.437e-15	0.002445	1	0
KCNH8	131096	broad.mit.edu	37	3	19554594	19554594	+	Missense_Mutation	SNP	C	C	T	rs138619397		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:19554594C>T	ENST00000328405.2	+	13	2478	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	738						integral to membrane	two-component sensor activity	p.R738G(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						ATCTTCTTCGCGCAACAAGAA	0.552000													15	48					0	0	0.004990	0	0
ACVRL1	94	broad.mit.edu	37	12	52312877	52312877	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52312877C>A	ENST00000550683.1	+	8	1498	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	ACVRL1_ENST00000419526.2_Missense_Mutation_p.P278H|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P452H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	452	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCACCATCCCTAACCGGCTG	0.587000													19	62					1.56452e-12	2.85783e-12	0.007413	1	0
NSD1	64324	broad.mit.edu	37	5	176675284	176675284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:176675284G>T	ENST00000439151.2	+	11	4645	c.4600G>T	c.(4600-4602)Gaa>Taa	p.E1534*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1431*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1265*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1534					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATGCAGGGTGAACGCGGTGG	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	5					3.27435e-08	5.47183e-08	0.002450	1	0
HEATR3	55027	broad.mit.edu	37	16	50118116	50118116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50118116A>G	ENST00000299192.7	+	9	1395	c.1204A>G	c.(1204-1206)Agt>Ggt	p.S402G	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S316G	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	402							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAATTCCTTCAGTGAGTGCGG	0.502000													15	81					0	0	0.002450	0	0
PSME4	23198	broad.mit.edu	37	2	54137242	54137242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:54137242C>A	ENST00000404125.1	-	21	2597	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	848					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACTTTGTCTCTTCCAAGGAC	0.333000													91	105					1.09269e-41	2.30756e-41	0.003610	1	0
TRPV5	56302	broad.mit.edu	37	7	142625329	142625329	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142625329T>C	ENST00000265310.1	-	7	1111	c.762_splice	c.e7-1	p.M255_splice	TRPV5_ENST00000442623.1_Splice_Site_p.M255_splice	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	255					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			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)					TGCTGGAACATCTGAGAGACC	0.567000													13	93					0	0	0.003163	0	0
ADAM12	8038	broad.mit.edu	37	10	127738229	127738229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:127738229G>C	ENST00000368679.4	-	15	1937	c.1628C>G	c.(1627-1629)cCt>cGt	p.P543R	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.P543R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	543	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGGGGCAGGTTTAGCACC	0.473000													32	36					0	0	0.002096	0	0
PTPRJ	5795	broad.mit.edu	37	11	48168496	48168496	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:48168496A>G	ENST00000418331.2	+	15	3332	c.2980A>G	c.(2980-2982)Atc>Gtc	p.I994V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	994					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAGGCTTCATCTTCTGGAG	0.398000													96	115					0	0	0.003610	0	0
CLUH	23277	broad.mit.edu	37	17	2604689	2604689	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:2604689G>A	ENST00000570628.1	-	6	861	c.756C>T	c.(754-756)acC>acT	p.T252T	CLUH_ENST00000435359.1_Silent_p.T252T|CLUH_ENST00000538975.1_Silent_p.T252T|CLUH_ENST00000575014.1_Silent_p.T184T					clustered mitochondria (cluA/CLU1) homolog																		GTGTGGACGCGGTGATGCTGA	0.652000													10	2					0	0	0.006214	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709079	38709079	+	RNA	SNP	C	C	T	rs111340107		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537000													8	46					0	0	0.006214	0	0
ZNF670	93474	broad.mit.edu	37	1	247200823	247200823	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247200823T>A	ENST00000366503.2	-	4	1256	c.1098A>T	c.(1096-1098)gaA>gaT	p.E366D		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTCTTACATTCATAGGGTT	0.403000													28	68					0	0	0.007291	0	0
EMR2	30817	broad.mit.edu	37	19	14862462	14862462	+	Missense_Mutation	SNP	C	C	G	rs143659792	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14862462C>G	ENST00000315576.3	-	16	2261	c.1810G>C	c.(1810-1812)Ggt>Cgt	p.G604R	EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.G593R|EMR2_ENST00000594294.1_Missense_Mutation_p.G555R|EMR2_ENST00000601345.1_Missense_Mutation_p.G593R|EMR2_ENST00000392965.3_Missense_Mutation_p.G546R|EMR2_ENST00000346057.1_Missense_Mutation_p.G555R|EMR2_ENST00000353005.1_Missense_Mutation_p.G462R|EMR2_ENST00000594076.1_Missense_Mutation_p.G511R|EMR2_ENST00000595839.1_Missense_Mutation_p.G462R|EMR2_ENST00000353876.1_Missense_Mutation_p.G511R|EMR2_ENST00000392967.2_Missense_Mutation_p.G593R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	604					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCAAGGTACCGGCGATGATG	0.567000													25	43					0	0	0.003330	0	0
DCHS2	54798	broad.mit.edu	37	4	155219268	155219268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155219268G>T	ENST00000357232.3	-	18	4832	c.4833C>A	c.(4831-4833)gaC>gaA	p.D1611E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1611	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TGGGCCCCAAGTCCAGGTCAT	0.418000													36	30					1.07637e-12	1.96973e-12	0.004878	1	0
GALNTL6	442117	broad.mit.edu	37	4	173873273	173873273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:173873273C>G	ENST00000506823.1	+	10	1892	c.1235C>G	c.(1234-1236)aCg>aGg	p.T412R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.T395R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	412						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCTCTCCACGGGGGACATC	0.557000													14	65					0	0	0.001855	0	0
CNDP1	84735	broad.mit.edu	37	18	72245483	72245483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:72245483C>T	ENST00000582365.1	+	8	1025	c.959C>T	c.(958-960)aCa>aTa	p.T320I	CNDP1_ENST00000358821.3_Missense_Mutation_p.T363I			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	363					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAACTAAAACAGTCATACCT	0.423000													22	21					0	0	0.001882	0	0
ZNF625	90589	broad.mit.edu	37	19	12256755	12256755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:12256755C>A	ENST00000355738.1	-	4	627	c.278G>T	c.(277-279)gGg>gTg	p.G93V	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.G93V|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159V|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGGTTTCCCCCCAGTGTGAGC	0.428000													28	97					1.16021e-09	1.99548e-09	0.007291	1	0
NCOR1	9611	broad.mit.edu	37	17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:16068406G>C	ENST00000268712.3	-	5	762	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q169E|NCOR1_ENST00000395848.1_Missense_Mutation_p.Q60E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	169	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393000													3	98					0	0	0.001984	0	0
ING5	84289	broad.mit.edu	37	2	242648716	242648716	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:242648716G>T	ENST00000313552.6	+	3	221	c.195G>T	c.(193-195)ctG>ctT	p.L65L	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.L65L	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	65					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGAGCGCCTGCAGAAGATCC	0.567000													58	206					4.1673e-28	8.58327e-28	0.003610	1	0
ELAC2	60528	broad.mit.edu	37	17	12916588	12916588	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:12916588C>A	ENST00000338034.4	-	6	734	c.495G>T	c.(493-495)gtG>gtT	p.V165V	ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Silent_p.V165V|ELAC2_ENST00000395962.2_Silent_p.V146V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	165				V -> M (in Ref. 2; AK001392).	tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGTGGGGCCGCACAGCTACAA	0.493000													9	15					3.09899e-07	5.06876e-07	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179442239	179442239	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179442239T>C	ENST00000589042.1	-	324	69049		c.e324-2		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TTGGTGCCTCTGCAAAGAAAA	0.343000													13	34					0	0	0.004990	0	0
UBXN7	26043	broad.mit.edu	37	3	196096339	196096339	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196096339T>C	ENST00000296328.4	-	7	733	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	UBXN7_ENST00000535858.1_Missense_Mutation_p.Y72C|UBXN7_ENST00000428095.1_Missense_Mutation_p.Y58C	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	220							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCTAACTTATAAAACTGTAT	0.353000													15	65					0	0	0.007413	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745762	77745762	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:77745762A>T	ENST00000409088.3	-	3	1647	c.1233T>A	c.(1231-1233)ccT>ccA	p.P411P	LRRTM4_ENST00000409884.1_Silent_p.P411P|LRRTM4_ENST00000409282.1_Silent_p.P412P|LRRTM4_ENST00000409093.1_Silent_p.P411P|LRRTM4_ENST00000409911.1_Silent_p.P412P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	411						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTCTGCGCCAGGAATCTGAA	0.483000													12	62					0	0	0.001368	0	0
BCL9L	283149	broad.mit.edu	37	11	118772310	118772310	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118772310C>A	ENST00000334801.3	-	6	3106	c.2142G>T	c.(2140-2142)gcG>gcT	p.A714A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	714	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTGTCGGTGCGCCTGCATCA	0.662000													20	54					5.35267e-07	8.72642e-07	0.007413	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55377864	55377864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:55377864C>A	ENST00000326321.3	+	8	1178	c.1145C>A	c.(1144-1146)aCa>aAa	p.T382K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.T382K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.T365K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	382					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			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)		GGGGACAGAACAGTGAATAGG	0.532000													25	123					1.85244e-09	3.18061e-09	0.003330	1	0
TMEM154	201799	broad.mit.edu	37	4	153565566	153565566	+	Splice_Site	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:153565566C>T	ENST00000304385.3	-	4	624		c.e4+1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGAAAACTTACACTTTCACGT	0.413000													9	23					0	0	0.000673	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722462	150722462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:150722462C>T	ENST00000335244.4	-	4	556	c.427G>A	c.(427-429)Gct>Act	p.A143T	SLC36A2_ENST00000521967.1_Missense_Mutation_p.A143T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	143					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGTGAGCGTGATTCTGG	0.537000													23	26					0	0	0.004656	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566132	155566132	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:155566132G>A	ENST00000295101.2	+	2	1197	c.720G>A	c.(718-720)gaG>gaA	p.E240E	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	240					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGACACCTGAGGGTGAGTTCC	0.448000													25	70					0	0	0.004656	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855540	183855540	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:183855540G>A	ENST00000273783.3	+	3	575	c.453G>A	c.(451-453)gtG>gtA	p.V151V	EIF2B5_ENST00000444495.1_Silent_p.V151V|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	151					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCTTCTGGTGTATGGGGATG	0.473000													53	95					0	0	0.003610	0	0
IBTK	25998	broad.mit.edu	37	6	82911176	82911176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:82911176C>G	ENST00000306270.7	-	19	3302	c.2753G>C	c.(2752-2754)gGt>gCt	p.G918A	IBTK_ENST00000510291.1_Missense_Mutation_p.G918A|IBTK_ENST00000503631.1_Missense_Mutation_p.G717A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	918					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAACACCATCGCTTAA	0.318000													11	13					0	0	0.000978	0	0
HVCN1	84329	broad.mit.edu	37	12	111089187	111089187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:111089187C>G	ENST00000356742.5	-	5	1231	c.478G>C	c.(478-480)Gtc>Ctc	p.V160L	HVCN1_ENST00000548312.1_Missense_Mutation_p.V160L|HVCN1_ENST00000242607.8_Missense_Mutation_p.V160L|HVCN1_ENST00000439744.2_Missense_Mutation_p.V140L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	160					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGGCGGAAGACAAATAATTTA	0.468000													32	54					0	0	0.002836	0	0
TM9SF2	9375	broad.mit.edu	37	13	100193874	100193874	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:100193874C>A	ENST00000376387.4	+	9	1160	c.970C>A	c.(970-972)Cgg>Agg	p.R324R		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	324					transport	endosome membrane|integral to plasma membrane		p.R324G(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358000													24	45					1.1804e-14	2.22519e-14	0.003954	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914815	94914815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94914815G>T	ENST00000334708.3	-	2	361	c.297C>A	c.(295-297)atC>atA	p.I99I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	99					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622000													24	142					2.89027e-11	5.12063e-11	0.002299	1	0
LAMA4	3910	broad.mit.edu	37	6	112486448	112486448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112486448C>T	ENST00000230538.7	-	13	1979	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E521K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E521K|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E521K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	528	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCACCACTTCCATTTGTTCC	0.453000													19	64					0	0	0.001216	0	0
IPO7	10527	broad.mit.edu	37	11	9466672	9466672	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:9466672A>C	ENST00000379719.3	+	25	3190	c.3048A>C	c.(3046-3048)ggA>ggC	p.G1016G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1016					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCATGGAGGATACAAATTCA	0.378000													15	46					0	0	0.004007	0	0
NPAP1	23742	broad.mit.edu	37	15	24922500	24922500	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:24922500G>T	ENST00000329468.2	+	1	1960	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTCACTTCTGACCCCCCAAC	0.522000													43	191					9.73076e-26	1.98381e-25	0.006999	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445495	10445495	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:10445495C>A	ENST00000326756.3	-	3	2896	c.2458G>T	c.(2458-2460)Gac>Tac	p.D820Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTCTGAGTCCGCCTGTCTC	0.468000													21	58					2.21704e-12	4.02038e-12	0.002780	1	0
SEPN1	57190	broad.mit.edu	37	1	26138256	26138256	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:26138256C>T	ENST00000361547.2	+	9	1222	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	SEPN1_ENST00000374315.1_Silent_p.H355H|SEPN1_ENST00000354177.4_Silent_p.H355H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	389						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACAGCCACCTGCCTTCAG	0.647000													4	17					0	0	0.000248	0	0
SH2D5	400745	broad.mit.edu	37	1	21054083	21054083	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:21054083A>T	ENST00000444387.2	-	3	498	c.101T>A	c.(100-102)tTc>tAc	p.F34Y	SH2D5_ENST00000375031.1_5'UTR|SH2D5_ENST00000460804.1_Intron	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	269										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCCACAGGGAAGGAGCCCAC	0.637000													13	5					0	0	0.003163	0	0
LRP5	4041	broad.mit.edu	37	11	68177399	68177399	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68177399C>T	ENST00000294304.7	+	10	2215	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	703	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGCGCCTTCATGAACGGGA	0.547000													24	59					0	0	0.003954	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493624	62493624	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:62493624A>T	ENST00000369916.3	+	1	1059	c.731A>T	c.(730-732)tAc>tTc	p.Y244F		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	244							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CTGGTGGTCTACGGCTGGTCT	0.677000													9	26					0	0	0.004482	0	0
SOS2	6655	broad.mit.edu	37	14	50596694	50596694	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:50596694G>C	ENST00000216373.5	-	21	3638	c.3364C>G	c.(3364-3366)Ctt>Gtt	p.L1122V	SOS2_ENST00000543680.1_Missense_Mutation_p.L1089V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1122					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTGGCAAAAGCACTGGAGCA	0.274000													6	33					0	0	0.003080	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558615	140558615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140558615G>A	ENST00000239444.2	+	1	1245	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V334I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCACCGTTCTGATTCA	0.433000													38	352					0	0	0.004878	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			22	14					0	0	0.001523	0	0
KIF6	221458	broad.mit.edu	37	6	39507828	39507828	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39507828C>A	ENST00000287152.7	-	13	1690	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	KIF6_ENST00000373216.3_Missense_Mutation_p.Q532H|KIF6_ENST00000373213.4_Missense_Mutation_p.Q371H|KIF6_ENST00000373215.3_Missense_Mutation_p.Q532H|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	532					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGCTGAAGTCCTGGGCCTGTG	0.458000													103	114					3.01496e-42	6.38049e-42	0.003610	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244767	1244767	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:1244767C>A	ENST00000324642.3	+	11	1664	c.1541C>A	c.(1540-1542)cCc>cAc	p.P514H		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	514					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCCAGCCCCTACTGGCGG	0.602000													17	127					7.07596e-05	0.000107809	0.006122	1	0
CR2	1380	broad.mit.edu	37	1	207648236	207648236	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207648236T>A	ENST00000367057.3	+	14	2580	c.2391T>A	c.(2389-2391)ttT>ttA	p.F797L	CR2_ENST00000458541.2_Missense_Mutation_p.F711L|CR2_ENST00000367058.3_Missense_Mutation_p.F738L|CR2_ENST00000367059.3_Missense_Mutation_p.F738L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	870	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAACTTTCTATATGGAA	0.418000													24	83					0	0	0.002299	0	0
ADAM2	2515	broad.mit.edu	37	8	39682394	39682394	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:39682394T>A	ENST00000265708.4	-	4	314	c.211A>T	c.(211-213)Aga>Tga	p.R71*	ADAM2_ENST00000521880.1_Nonsense_Mutation_p.R71*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.R71*|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.R71*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	71					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTAAACTCTAAAATTATGG	0.264000													13	34					0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89403596	89403596	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:89403596G>T	ENST00000439576.2	+	13	7246	c.6872G>T	c.(6871-6873)gGg>gTg	p.G2291V	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.G2291V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2291					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGGAGCTGGGACCTGCAAG	0.617000													20	18					1.00905e-13	1.77911e-13	0.001216	1	0
DHX38	9785	broad.mit.edu	37	16	72132917	72132917	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:72132917T>A	ENST00000268482.3	+	6	1365	c.856T>A	c.(856-858)Tcc>Acc	p.S286T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	286					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACTTGGGGTCCACCCCGCG	0.617000													8	23					0	0	0.003080	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960130	10960130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:10960130C>T	ENST00000254488.2	+	8	1178	c.1112C>T	c.(1111-1113)gCa>gTa	p.A371V		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	371					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGAGGTGGCAGAGTCAGGT	0.567000													17	8					0	0	0.001216	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325847	52325847	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:52325847G>T	ENST00000436784.2	+	4	674	c.614G>T	c.(613-615)cGt>cTt	p.R205L	GLYCTK_ENST00000477382.1_Intron|GLYCTK_ENST00000305690.8_Missense_Mutation_p.R205L|GLYCTK_ENST00000354773.4_Intron|GLYCTK_ENST00000471180.1_Missense_Mutation_p.R78L|GLYCTK_ENST00000461183.1_Missense_Mutation_p.R121L|GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	205					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTGGCAGCCCGTGGAGCCACC	0.622000											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	41					2.42023e-17	4.48652e-17	0.003271	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044239	90044239	+	RNA	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:90044239G>T	ENST00000462693.1	+	0	190																											ACACAGTGATGGAAACACCTA	0.527000													52	103					1.80625e-27	3.55938e-27	0.003610	1	0
EBF3	253738	broad.mit.edu	37	10	131639253	131639253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:131639253G>T	ENST00000368648.3	-	14	1461	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Y472*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCTGGGGACGTAGCCTCGCG	0.547000													41	80					2.40579e-17	4.47745e-17	0.006230	1	0
KEL	3792	broad.mit.edu	37	7	142640671	142640671	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:142640671G>T	ENST00000355265.2	-	15	2079	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	535					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTCCCAAGGGGACACCTTCC	0.552000													13	57					2.68362e-12	4.61878e-12	0.001368	1	0
GRM3	2913	broad.mit.edu	37	7	86415633	86415633	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:86415633C>A	ENST00000361669.2	+	3	1624	c.525C>A	c.(523-525)agC>agA	p.S175R	GRM3_ENST00000394720.2_Missense_Mutation_p.S173R|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.S47R|GRM3_ENST00000439827.1_Missense_Mutation_p.S175R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	175					synaptic transmission	integral to plasma membrane		p.S175S(1)|p.S175R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCCACCAGCGCCAAACTCA	0.552000													59	132					2.30037e-20	4.37676e-20	0.003610	1	0
MSGN1	343930	broad.mit.edu	37	2	17998364	17998364	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:17998364G>A	ENST00000281047.3	+	1	602	c.579G>A	c.(577-579)gcG>gcA	p.A193A		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	193					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCAGAGCGCGTGAGCTCCAT	0.542000													24	21					0	0	0.003954	0	0
ZNF530	348327	broad.mit.edu	37	19	58118332	58118332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:58118332G>C	ENST00000332854.6	+	3	1659	c.1439G>C	c.(1438-1440)cGa>cCa	p.R480P	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACCTCATTCGACACCAGACA	0.438000													35	33					0	0	0.003755	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121668	46121668	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:46121668C>A	ENST00000374366.3	-	8	1846	c.1381G>T	c.(1381-1383)Ggg>Tgg	p.G461W	ZFAND4_ENST00000344646.5_Missense_Mutation_p.G535W|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	535							zinc ion binding										GATCTTTTCCCAAGTGAATCA	0.388000													20	72					8.34094e-07	1.2701e-06	0.001216	1	0
ZNF133	7692	broad.mit.edu	37	20	18296949	18296949	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:18296949A>G	ENST00000377671.3	+	7	2010	c.1451A>G	c.(1450-1452)cAg>cGg	p.Q484R	ZNF133_ENST00000535822.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q485R|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q488R|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q422R|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q485R|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	485						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ATCAGACACCAGAGGACGCAC	0.582000													21	55					0	0	0.001216	0	0
DCHS2	54798	broad.mit.edu	37	4	155226261	155226261	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:155226261A>G	ENST00000357232.3	-	16	4017	c.4018T>C	c.(4018-4020)Ttc>Ctc	p.F1340L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1340	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		CGAAGGGTGAAGACTTCTTGA	0.323000													18	18					0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57829617	57829617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:57829617C>G	ENST00000371030.2	+	5	4853	c.4853C>G	c.(4852-4854)tCt>tGt	p.S1618C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1618						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTCAGGTATCTGGATTAATC	0.488000													21	98					0	0	0.001882	0	0
BRINP3	339479	broad.mit.edu	37	1	190250824	190250824	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:190250824C>A	ENST00000367462.3	-	3	524	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		98						extracellular region		p.G98V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGAGGAGAGCCAAGGAAATT	0.393000													20	23					4.96729e-08	7.88379e-08	0.001216	1	0
ZNF208	7757	broad.mit.edu	37	19	22154889	22154889	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:22154889T>C	ENST00000397126.4	-	4	3095	c.2947A>G	c.(2947-2949)Agt>Ggt	p.S983G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAATGTACTAAAGCCTTTG	0.358000													30	55					0	0	0.007291	0	0
HGF	3082	broad.mit.edu	37	7	81388078	81388078	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:81388078G>T	ENST00000222390.5	-	3	523	c.297C>A	c.(295-297)ttC>ttA	p.F99L	HGF_ENST00000423064.2_Missense_Mutation_p.F99L|HGF_ENST00000453411.1_Missense_Mutation_p.F99L|HGF_ENST00000457544.2_Missense_Mutation_p.F99L|HGF_ENST00000354224.6_Missense_Mutation_p.F99L|HGF_ENST00000444829.2_Missense_Mutation_p.F99L|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	99	PAN.				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			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						TATTGAAGGGGAACCAGAGGC	0.318000													36	59					6.5261e-18	1.22921e-17	0.001951	1	0
MRPS30	10884	broad.mit.edu	37	5	44809461	44809461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:44809461C>T	ENST00000507110.1	+	1	435	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	133					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					cgaacccgaacctgaaccTGC	0.697000													4	24					0	0	0.000248	0	0
OR8J1	219477	broad.mit.edu	37	11	56127929	56127929	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:56127929T>C	ENST00000303039.3	+	1	239	c.207T>C	c.(205-207)atT>atC	p.I69I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGCTCTCATTAATCTTGGTA	0.453000													27	108					0	0	0.006320	0	0
SEC24A	10802	broad.mit.edu	37	5	134029560	134029560	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:134029560C>A	ENST00000398844.2	+	13	2211	c.1923C>A	c.(1921-1923)ctC>ctA	p.L641L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	641					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACACAACTCCCAACTCTTG	0.498000													15	37					1.67942e-08	2.67907e-08	0.006122	1	0
JMJD1C	221037	broad.mit.edu	37	10	64960389	64960389	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:64960389A>C	ENST00000399262.2	-	11	5341	c.5123T>G	c.(5122-5124)cTg>cGg	p.L1708R	JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1489R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L1526R|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1708					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTTTGCTTCAGCTTCTTGAC	0.373000													3	16					0	0	0.000248	0	0
CTNND2	1501	broad.mit.edu	37	5	11159793	11159793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:11159793G>T	ENST00000304623.8	-	12	2243	c.2054C>A	c.(2053-2055)gCg>gAg	p.A685E	CTNND2_ENST00000511377.1_Missense_Mutation_p.A594E|CTNND2_ENST00000458100.2_Missense_Mutation_p.A252E|CTNND2_ENST00000359640.2_Missense_Mutation_p.A685E|CTNND2_ENST00000503622.1_Missense_Mutation_p.A348E|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATAATCACCGCGTTGGTCAG	0.517000													21	173					3.8784e-16	7.10536e-16	0.001882	1	0
DNAH5	1767	broad.mit.edu	37	5	13839501	13839501	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:13839501C>A	ENST00000265104.4	-	35	5950	c.5846G>T	c.(5845-5847)tGc>tTc	p.C1949F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1949	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTCAGTGCAGCCTAAAAA	0.423000									Kartagener syndrome				27	140					7.26314e-15	1.31268e-14	0.007291	1	0
PTH2R	5746	broad.mit.edu	37	2	209302279	209302279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:209302279G>T	ENST00000272847.2	+	3	409	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	66						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTTTCCCTGAATGGGATGG	0.343000													23	26					7.87624e-14	1.39658e-13	0.002780	1	0
C17orf66	256957	broad.mit.edu	37	17	34182684	34182684	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:34182684T>A	ENST00000311880.2	-	14	1497	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	C17orf66_ENST00000592980.1_Missense_Mutation_p.Q410L	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	450							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTCACAGCCTGGTGGTTTTC	0.532000													43	43					0	0	0.001951	0	0
RNF150	57484	broad.mit.edu	37	4	141847144	141847144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:141847144G>T	ENST00000306799.3	-	5	1501	c.848C>A	c.(847-849)gCc>gAc	p.A283D	RNF150_ENST00000379512.2_Missense_Mutation_p.A184D|RNF150_ENST00000515673.1_Missense_Mutation_p.A325D|RNF150_ENST00000420921.2_Missense_Mutation_p.A184D|RNF150_ENST00000507500.1_Missense_Mutation_p.A325D	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	325						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GATCCCTAGGGCTTTAAGAAT	0.468000													10	99					2.80697e-09	4.57903e-09	0.000978	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009299	88009299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:88009299C>A	ENST00000276127.4	+	3	1143	c.884C>A	c.(883-885)tCa>tAa	p.S295*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.S295*	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	295						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGACAACATTCATGCAGCTCT	0.299000													16	2					1.99824e-07	3.11871e-07	0.004990	1	0
OR4N4	283694	broad.mit.edu	37	15	22383249	22383249	+	Missense_Mutation	SNP	G	G	T	rs112081824	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:22383249G>T	ENST00000328795.4	+	1	868	c.777G>T	c.(775-777)atG>atT	p.M259I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATCTACATGTGCCCTTTCA	0.453000													41	208					3.43241e-23	6.66585e-23	0.002222	1	0
SLC25A23	79085	broad.mit.edu	37	19	6442073	6442073	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:6442073G>T	ENST00000301454.4	-	10	1426	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	SLC25A23_ENST00000601760.1_Intron|SLC25A23_ENST00000414491.2_Silent_p.P201P	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	440					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TCATGAAGTTGGGGGCGATCC	0.622000													8	48					0.000274275	0.000390395	0.004482	1	0
ITCH	83737	broad.mit.edu	37	20	33033227	33033227	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:33033227A>T	ENST00000374864.4	+	11	1314	c.1101A>T	c.(1099-1101)caA>caT	p.Q367H	ITCH_ENST00000535650.1_Missense_Mutation_p.Q257H|ITCH_ENST00000262650.6_Missense_Mutation_p.Q408H|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	408	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCAGCTTCAAGGAGCAATGC	0.433000													8	55					0	0	0.000978	0	0
ALPPL2	251	broad.mit.edu	37	2	233272622	233272622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:233272622C>A	ENST00000295453.3	+	5	595	c.543C>A	c.(541-543)caC>caA	p.H181Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	181					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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)	Amifostine(DB01143)|Levamisole(DB00848)	CCTACGCCCACACGGTGAACC	0.627000													25	91					9.57634e-11	1.61268e-10	0.003330	1	0
CSMD3	114788	broad.mit.edu	37	8	113694687	113694687	+	Silent	SNP	C	C	T	rs147640061		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:113694687C>T	ENST00000297405.5	-	16	2905	c.2661G>A	c.(2659-2661)ctG>ctA	p.L887L	CSMD3_ENST00000352409.3_Silent_p.L887L|CSMD3_ENST00000455883.2_Silent_p.L783L|CSMD3_ENST00000343508.3_Silent_p.L847L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	887	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTGGAATCAGTCCACTCC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	88					0	0	0.004878	0	0
OBSCN	84033	broad.mit.edu	37	1	228554824	228554824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:228554824G>T	ENST00000570156.2	+	97	22521	c.22447G>T	c.(22447-22449)Ggg>Tgg	p.G7483W	OBSCN_ENST00000422127.1_Missense_Mutation_p.G6526W|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4160W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6526	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTCACGGGGCTGCTGGA	0.652000													4	15					3.59834e-05	5.24921e-05	0.001168	1	0
SEL1L2	80343	broad.mit.edu	37	20	13868451	13868451	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:13868451C>T	ENST00000284951.5	-	8	783	c.709G>A	c.(709-711)Gtt>Att	p.V237I	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.V237I			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	237						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTAGGGCAACTTCACAATTC	0.308000													24	115					0	0	0.003954	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834402	101834402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:101834402G>C	ENST00000263468.8	+	6	2906	c.2636G>C	c.(2635-2637)tGt>tCt	p.C879S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C680S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	879							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCATCATATTGTTCTTCAGAG	0.418000													24	18					0	0	0.002299	0	0
SNTG1	54212	broad.mit.edu	37	8	51449264	51449264	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:51449264G>T	ENST00000522124.1	+	11	1237	c.576G>T	c.(574-576)ccG>ccT	p.P192P	SNTG1_ENST00000518864.1_Silent_p.P192P|SNTG1_ENST00000517473.1_Silent_p.P192P|SNTG1_ENST00000276467.5_Silent_p.P192P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	192					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGTCGTGGCCGACGTCTCCAG	0.463000													35	131					5.43694e-19	1.02819e-18	0.005524	1	0
GJA8	2703	broad.mit.edu	37	1	147380375	147380375	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:147380375A>T	ENST00000240986.4	+	2	346	c.293A>T	c.(292-294)cAc>cTc	p.H98L	GJA8_ENST00000369235.1_Missense_Mutation_p.H98L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	98					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACGCGGTGCACTACGTCCGC	0.652000													17	57					0	0	0.006122	0	0
FAM71A	149647	broad.mit.edu	37	1	212799980	212799980	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:212799980G>T	ENST00000294829.3	+	1	2192	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	587										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACATCATGGAGACAGTGACCT	0.567000													27	112					3.65163e-15	6.65093e-15	0.006320	1	0
MYLK	4638	broad.mit.edu	37	3	123471326	123471326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:123471326G>T	ENST00000360772.3	-	6	603	c.225C>A	c.(223-225)agC>agA	p.S75R	MYLK_ENST00000360304.3_Missense_Mutation_p.S75R|MYLK_ENST00000346322.5_Missense_Mutation_p.S75R|MYLK_ENST00000359169.1_Missense_Mutation_p.S75R|MYLK_ENST00000475616.1_Missense_Mutation_p.S75R			Q15746	MYLK_HUMAN	myosin light chain kinase	75	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGGCCCCCGCTGGTGATGG	0.552000													24	28					5.45024e-15	9.88844e-15	0.003330	1	0
GALR1	2587	broad.mit.edu	37	18	74962925	74962925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr18:74962925C>G	ENST00000299727.3	+	1	421	c.421C>G	c.(421-423)Cgg>Ggg	p.R141G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	141					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGTGCACTCGCGGCGCTCCTC	0.652000													16	18					0	0	0.003163	0	0
ADNP2	22850	broad.mit.edu	37	18	77896155	77896155	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr18:77896155G>C	ENST00000262198.4	+	4	3314	c.2859G>C	c.(2857-2859)ccG>ccC	p.P953P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	953					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGGCCCAGCCGGGTTTTATTC	0.532000													22	29					0	0	0.001882	0	0
ZNF883	169834	broad.mit.edu	37	9	115760475	115760475	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:115760475T>C	ENST00000427548.1	-	0	1338							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGACAAGTGTAGCCTTTCCC	0.368000													42	67					0	0	0.001951	0	0
IRS4	8471	broad.mit.edu	37	X	107978532	107978532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:107978532C>T	ENST00000372129.2	-	1	1119	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	348						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGGTGGGCGCCGATGCTGAT	0.592000													76	185					0	0	0.003610	0	0
CA12	771	broad.mit.edu	37	15	63632630	63632630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:63632630C>T	ENST00000178638.3	-	7	1044	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	CA12_ENST00000422263.2_Missense_Mutation_p.V142I|CA12_ENST00000344366.3_Missense_Mutation_p.V202I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	202					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	AATCCCGGGACGAATGCTTCC	0.562000													12	49					0	0	0.001368	0	0
TMED10	10972	broad.mit.edu	37	14	75614419	75614419	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:75614419T>G	ENST00000303575.4	-	3	410	c.359A>C	c.(358-360)cAa>cCa	p.Q120P	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	120	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GATCACGAGTTGGTCAGGTAT	0.493000													55	218					0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167196746	167196746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:167196746T>G	ENST00000308378.3	-	15	2319	c.2014A>C	c.(2014-2016)Aag>Cag	p.K672Q	WDR49_ENST00000453925.2_Missense_Mutation_p.K637Q|WDR49_ENST00000476376.1_Missense_Mutation_p.K497Q|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000479765.1_3'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	672										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAATTTCCTTGGGAAACAGG	0.308000													22	46					0	0	0.001882	0	0
ZNF525	170958	broad.mit.edu	37	19	53884814	53884814	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:53884814A>C	ENST00000467003.1	+	4	1075	c.874A>C	c.(874-876)Aag>Cag	p.K292Q	ZNF525_ENST00000355326.3_Missense_Mutation_p.K46Q|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.K328Q					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GAAACCACATAAGTGTAATGA	0.398000													3	59					0	0	0.004672	0	0
PAX6	5080	broad.mit.edu	37	11	31823216	31823216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:31823216C>A	ENST00000419022.1	-	7	760	c.292G>T	c.(292-294)Gta>Tta	p.V98L	PAX6_ENST00000379123.5_Missense_Mutation_p.V84L|PAX6_ENST00000379132.3_Missense_Mutation_p.V84L|PAX6_ENST00000379111.2_Missense_Mutation_p.V84L|PAX6_ENST00000379129.2_Missense_Mutation_p.V98L|PAX6_ENST00000379107.2_Missense_Mutation_p.V98L|PAX6_ENST00000379115.4_Missense_Mutation_p.V98L|PAX6_ENST00000241001.8_Missense_Mutation_p.V84L	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	84	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATTTTGCTTACAACTTCTGGA	0.502000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				23	59					1.87028e-06	2.81142e-06	0.001882	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874155	48874155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:48874155C>T	ENST00000394754.1	+	8	3178	c.3064C>T	c.(3064-3066)Ccc>Tcc	p.P1022S	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P975S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P1022S|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P284S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.P318S|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		975					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATAGAGGAACCCAGCAACAT	0.413000													7	25					0	0	0.003080	0	0
TECR	9524	broad.mit.edu	37	19	14674476	14674476	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:14674476A>T	ENST00000436007.2	+	5	294	c.170A>T	c.(169-171)cAg>cTg	p.Q57L	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596164.1_3'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.Q42L			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	42					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GCAGATCCGCAGTGGTACCCC	0.701000													13	41					0	0	0.001368	0	0
C14orf39	317761	broad.mit.edu	37	14	60903645	60903645	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:60903645T>C	ENST00000321731.3	-	18	1841	c.1682A>G	c.(1681-1683)cAg>cGg	p.Q561R		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	561										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTTGACCCTGTCCAAATGA	0.323000													65	195					0	0	0.003610	0	0
TRPV4	59341	broad.mit.edu	37	12	110230484	110230484	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:110230484C>A	ENST00000418703.2	-	10	1891	c.1797G>T	c.(1795-1797)acG>acT	p.T599T	TRPV4_ENST00000537083.1_Silent_p.T539T|TRPV4_ENST00000536838.1_Silent_p.T565T|TRPV4_ENST00000392719.2_Silent_p.T552T|TRPV4_ENST00000346520.2_Silent_p.T539T|TRPV4_ENST00000261740.2_Silent_p.T599T|TRPV4_ENST00000544971.1_Silent_p.T492T|TRPV4_ENST00000541794.1_Silent_p.T552T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	599					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TATAGGTCCCCGTCAGCTTCA	0.577000													22	41					1.87028e-06	2.81142e-06	0.001882	1	0
VCAM1	7412	broad.mit.edu	37	1	101200228	101200228	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:101200228A>G	ENST00000294728.2	+	8	2064	c.1963A>G	c.(1963-1965)Atc>Gtc	p.I655V	VCAM1_ENST00000370119.4_Missense_Mutation_p.I593V|VCAM1_ENST00000347652.2_Missense_Mutation_p.I563V|VCAM1_ENST00000370115.1_Missense_Mutation_p.I456V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	655	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGCCTATACCATCCGAAAGGC	0.398000													23	17					0	0	0.001882	0	0
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:105361169A>C	ENST00000453495.1	+	19	4875	c.4647A>C	c.(4645-4647)tcA>tcC	p.S1549S	CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S					centrosomal protein 170B									p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711000													10	31					0	0	0.001882	0	0
GART	2618	broad.mit.edu	37	21	34878381	34878381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:34878381G>A	ENST00000381831.3	-	19	2746	c.2483C>T	c.(2482-2484)aCt>aTt	p.T828I	GART_ENST00000381839.3_Missense_Mutation_p.T828I|GART_ENST00000543717.1_Missense_Mutation_p.T380I|GART_ENST00000381815.4_Missense_Mutation_p.T828I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	828	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTTCCCGAGTACTGTCTAT	0.423000													46	50					0	0	0.003214	0	0
WDR49	151790	broad.mit.edu	37	3	167250747	167250747	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:167250747A>T	ENST00000308378.3	-	8	1222	c.917T>A	c.(916-918)aTt>aAt	p.I306N	WDR49_ENST00000453925.2_Missense_Mutation_p.I370N|WDR49_ENST00000476376.1_Missense_Mutation_p.I131N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	306										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATAGAACAATTTCTCCATC	0.373000													12	54					0	0	0.001855	0	0
DNAH17	8632	broad.mit.edu	37	17	76475623	76475623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:76475623C>A	ENST00000389840.5	-	50	7926	c.7802G>T	c.(7801-7803)cGc>cTc	p.R2601L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2610L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAGACCGAGCGGAAGGCCAG	0.607000													22	139					4.35082e-09	7.06067e-09	0.001523	1	0
DAAM2	23500	broad.mit.edu	37	6	39841095	39841095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:39841095C>G	ENST00000538976.1	+	10	1308	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	DAAM2_ENST00000398904.2_Missense_Mutation_p.L376V|DAAM2_ENST00000274867.4_Missense_Mutation_p.L376V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	376	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTACCCCTGCCTGCTCTCTGT	0.562000													3	19					0	0	0.004672	0	0
SPATA6	54558	broad.mit.edu	37	1	48764465	48764465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:48764465C>A	ENST00000371847.3	-	13	1551	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E391*|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E447*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	463					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGCTGTTCTCAAAGATGGGT	0.468000													36	85					1.06647e-15	1.94621e-15	0.003755	1	0
RCHY1	25898	broad.mit.edu	37	4	76415818	76415818	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:76415818T>C	ENST00000324439.5	-	8	1028	c.630A>G	c.(628-630)ccA>ccG	p.P210P	RCHY1_ENST00000513257.1_Silent_p.P201P|RCHY1_ENST00000380840.2_Silent_p.P170P|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000512706.1_Silent_p.P188P	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	210					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GATATTCTGATGGCATAGGAG	0.408000													7	62					0	0	0.001984	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69043495	69043495	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:69043495G>T	ENST00000295381.3	+	7	1297		c.e7+1		ARHGAP25_ENST00000467265.1_Splice_Site|ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000409202.3_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACATCTGCAGGTGAGAGGCCC	0.488000													13	50					7.93312e-07	1.21391e-06	0.002450	1	0
UNCX	340260	broad.mit.edu	37	7	1273324	1273324	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:1273324G>T	ENST00000316333.8	+	2	554	c.443G>T	c.(442-444)cGa>cTa	p.R148L		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	148					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTCGAGTCCCGAGTTCAGGTA	0.657000													21	41					6.33239e-15	1.14668e-14	0.001523	1	0
ZNF625	90589	broad.mit.edu	37	19	12256756	12256756	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:12256756C>A	ENST00000355738.1	-	4	626	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	ZNF625_ENST00000542938.1_Missense_Mutation_p.G93W|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159W|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GGTTTCCCCCCAGTGTGAGCC	0.428000													27	95					7.38237e-10	1.21699e-09	0.006320	1	0
VEGFC	7424	broad.mit.edu	37	4	177605117	177605117	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:177605117C>G	ENST00000280193.2	-	7	1638	c.1223G>C	c.(1222-1224)tGt>tCt	p.C408S	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	408					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGAAGGGACACAACGACACAC	0.418000													43	38					0	0	0.002222	0	0
PTPRF	5792	broad.mit.edu	37	1	44058210	44058210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:44058210C>T	ENST00000359947.4	+	11	2091	c.1751C>T	c.(1750-1752)gCa>gTa	p.A584V	PTPRF_ENST00000422171.2_Missense_Mutation_p.A43V|PTPRF_ENST00000438120.1_Missense_Mutation_p.A584V|PTPRF_ENST00000372413.3_Missense_Mutation_p.A584V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A584V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	584	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGGCTGCACGCTCGGAT	0.612000													50	32					0	0	0.003610	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196426	102196426	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:102196426A>G	ENST00000306176.1	+	11	1360	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	ZPLD1_ENST00000491959.1_Silent_p.L404L|ZPLD1_ENST00000466937.1_Silent_p.L404L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	404						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCACAAGTTTAGTGTTGAATG	0.473000													38	112					0	0	0.005524	0	0
VWC2L	402117	broad.mit.edu	37	2	215301351	215301351	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:215301351A>T	ENST00000312504.5	+	3	1192		c.e3-1		AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Intron	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like							extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						ATTTGTTCCTAGCCCTCTCCA	0.428000													33	24					0	0	0.003271	0	0
PCDH15	65217	broad.mit.edu	37	10	55568470	55568470	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:55568470A>T	ENST00000395445.1	-	36	5734	c.5340T>A	c.(5338-5340)ggT>ggA	p.G1780G	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Silent_p.G714G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.G645G|PCDH15_ENST00000395446.1_Silent_p.G976G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTTGTAACCTTCAGAGT	0.483000										HNSCC(58;0.16)			6	19					0	0	0.001984	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904578	144904578	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:144904578A>G	ENST00000370490.1	+	1	4890	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q212R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q212R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	212						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGAGATTCAGCTGGAGGAA	0.473000													4	137					0	0	0.000248	0	0
HRH3	11255	broad.mit.edu	37	20	60791520	60791520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:60791520C>T	ENST00000340177.5	-	3	1164	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	HRH3_ENST00000317393.6_Missense_Mutation_p.G294S	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	294	Poly-Gly.				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCCCCACCGCCACCCCCGAGG	0.731000													3	7					0	0	0.004672	0	0
CEP290	80184	broad.mit.edu	37	12	88478552	88478552	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:88478552C>G	ENST00000552810.1	-	35	4858	c.4515G>C	c.(4513-4515)ctG>ctC	p.L1505L	CEP290_ENST00000309041.7_Silent_p.L1507L|CEP290_ENST00000547691.2_Silent_p.L565L|CEP290_ENST00000397838.3_Silent_p.L565L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATCGAAGCCTCAGTTCATTGA	0.363000													20	56					0	0	0.007413	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500485	102500485	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:102500485T>G	ENST00000360184.4	+	55	10750	c.10586T>G	c.(10585-10587)tTc>tGc	p.F3529C	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3529					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAACTTGTTCACTACCTGG	0.507000													41	219					0	0	0.007835	0	0
EPAS1	2034	broad.mit.edu	37	2	46607729	46607729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:46607729C>T	ENST00000263734.3	+	12	2428	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	640					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCCAGTGGCCCCCAGATCC	0.617000													52	100					0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77918505	77918505	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:77918505T>C	ENST00000302536.2	+	7	1036	c.882_splice	c.e7-1	p.W295_splice		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	295							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTCTTTGCAGTGGTGGCAGGT	0.502000													8	23					0	0	0.004482	0	0
NRDE2	55051	broad.mit.edu	37	14	90769079	90769079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:90769079C>T	ENST00000354366.3	-	6	1628	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E235K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		ATGGCCTCTTCCGTGCCAGGC	0.413000													8	44					0	0	0.004482	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350720	135350720	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:135350720G>T	ENST00000463117.2	+	9	1393	c.1121G>T	c.(1120-1122)cGa>cTa	p.R374L	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R374L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	374					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGCAACCCGAGACACCATT	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				14	67					6.72482e-11	1.13451e-10	0.003163	1	0
PCDH19	57526	broad.mit.edu	37	X	99551562	99551562	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:99551562C>G	ENST00000373034.4	-	6	4835	c.3160G>C	c.(3160-3162)Gag>Cag	p.E1054Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.E1006Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.E1007Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1054					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGCCTGCCTCCCGGATAACG	0.597000													32	31					0	0	0.002836	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506982	74506982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:74506982G>C	ENST00000354431.4	-	7	1824	c.1633C>G	c.(1633-1635)Cta>Gta	p.L545V	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L545V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	545										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTCTTTTAGGACAGCCTCA	0.328000													16	48					0	0	0.004007	0	0
HRC	3270	broad.mit.edu	37	19	49658346	49658346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:49658346G>T	ENST00000252825.4	-	1	335	c.149C>A	c.(148-150)tCc>tAc	p.S50Y	HRC_ENST00000595625.1_Missense_Mutation_p.S50Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	50					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTCCTCGGAGAGCCCGGC	0.602000													19	93					2.32416e-17	4.33411e-17	0.002299	1	0
PCDHA3	56145	broad.mit.edu	37	5	140180929	140180929	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:140180929G>T	ENST00000522353.2	+	1	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A49A|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.647000													35	86					2.42023e-17	4.48652e-17	0.003271	1	0
IL12RB1	3594	broad.mit.edu	37	19	18179338	18179338	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:18179338T>A	ENST00000600835.1	-	12	1493		c.e12-2		IL12RB1_ENST00000593993.1_Splice_Site|IL12RB1_ENST00000430026.2_Splice_Site			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTAGGTTGCTGGAAGGATAA	0.537000													33	197					0	0	0.004878	0	0
CLCN3	1182	broad.mit.edu	37	4	170608837	170608837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:170608837G>T	ENST00000513761.1	+	4	906	c.347G>T	c.(346-348)tGg>tTg	p.W116L	CLCN3_ENST00000504131.2_Missense_Mutation_p.W99L|CLCN3_ENST00000360642.3_Missense_Mutation_p.W116L|CLCN3_ENST00000347613.4_Missense_Mutation_p.W116L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	116					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAATCAGCATGGGAAATGACA	0.343000													12	9					0.000308642	0.000438646	0.003163	1	0
LAMA4	3910	broad.mit.edu	37	6	112457395	112457395	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:112457395A>C	ENST00000230538.7	-	25	3741	c.3344T>G	c.(3343-3345)tTc>tGc	p.F1115C	LAMA4_ENST00000522006.1_Missense_Mutation_p.F1108C|LAMA4_ENST00000424408.2_Missense_Mutation_p.F1108C|LAMA4_ENST00000389463.4_Missense_Mutation_p.F1108C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1115	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACCGCTGAATCCAAAATC	0.378000													3	45					0	0	0.004672	0	0
GATM	2628	broad.mit.edu	37	15	45660362	45660362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:45660362C>T	ENST00000396659.3	-	4	920	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	GATM_ENST00000558336.1_Missense_Mutation_p.R194Q	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	194					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CCTGTACGCTCGGTACTCAAA	0.493000													11	43					0	0	0.000673	0	0
IFNG	3458	broad.mit.edu	37	12	68551716	68551716	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:68551716A>T	ENST00000229135.3	-	3	474	c.343T>A	c.(343-345)Ttc>Atc	p.F115I	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	115					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			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)	AGCTTTTCGAAGTCATCTCGT	0.368000													24	94					0	0	0.004656	0	0
CHL1	10752	broad.mit.edu	37	3	367721	367721	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:367721T>A	ENST00000256509.2	+	4	813	c.171T>A	c.(169-171)tgT>tgA	p.C57*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.C57*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	57	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAATTGAATGTGAAGCTAAAG	0.348000													18	16					0	0	0.007413	0	0
TRIM48	79097	broad.mit.edu	37	11	55035843	55035843	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:55035843A>T	ENST00000417545.2	+	4	659	c.573A>T	c.(571-573)ttA>ttT	p.L191F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	175						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGACATATTATACAGGTGAG	0.338000													12	46					0	0	0.001855	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675353	3675353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:3675353T>A	ENST00000344754.4	-	11	2900	c.2901A>T	c.(2899-2901)tcA>tcT	p.S967S	SIGLEC1_ENST00000202578.4_Silent_p.S967S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	967	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCGTGGTGGCTGAGCCTGGGG	0.622000													15	60					0	0	0.002450	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621178	13621178	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr18:13621178A>T	ENST00000361205.4	+	5	912	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.I45F|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.I5F|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.I82F|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.I82F|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.I45F	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		GGTGGTGGTCATCGTCTGCCT	0.617000													41	110					0	0	0.006999	0	0
CUL7	9820	broad.mit.edu	37	6	43013126	43013126	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:43013126C>G	ENST00000535468.1	-	15	3215	c.3129G>C	c.(3127-3129)acG>acC	p.T1043T	CUL7_ENST00000265348.3_Silent_p.T959T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	959					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCGAATGCGCGTATCAATGC	0.597000													38	105					0	0	0.006230	0	0
ANXA11	311	broad.mit.edu	37	10	81928966	81928966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:81928966G>C	ENST00000438331.1	-	6	802	c.320C>G	c.(319-321)cCa>cGa	p.P107R	ANXA11_ENST00000265447.4_Missense_Mutation_p.P107R|ANXA11_ENST00000372231.3_Missense_Mutation_p.P107R|ANXA11_ENST00000360615.4_Missense_Mutation_p.P107R|ANXA11_ENST00000535999.1_Missense_Mutation_p.P107R|ANXA11_ENST00000422982.3_Missense_Mutation_p.P107R|ANXA11_ENST00000537102.1_Missense_Mutation_p.P74R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	107					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCCTGGGGGTGGATACATCCC	0.701000													15	20					0	0	0.004007	0	0
FSHR	2492	broad.mit.edu	37	2	49190015	49190015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:49190015T>A	ENST00000406846.2	-	10	2064	c.1945A>T	c.(1945-1947)Atg>Ttg	p.M649L	FSHR_ENST00000346173.3_Missense_Mutation_p.M587L|FSHR_ENST00000304421.4_Missense_Mutation_p.M623L|FSHR_ENST00000541117.1_Missense_Mutation_p.M385L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	649					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGCTTGCATTTCATAGCAG	0.483000									Gonadal Dysgenesis, 46 XX				13	40					0	0	0.001855	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145477757	145477757	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:145477757C>A	ENST00000311450.4	-	2	275	c.218G>T	c.(217-219)aGc>aTc	p.S73I		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	73										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACCGGTGCTCCAGCCCCC	0.512000													26	13					2.79863e-10	4.66273e-10	0.004656	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077157	19077157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:19077157C>A	ENST00000329773.2	-	2	880	c.793G>T	c.(793-795)Gtt>Ttt	p.V265F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	265					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACAGGACAACTGAAACTGGA	0.478000													26	37					7.33532e-06	1.08869e-05	0.003954	1	0
DAPK1	1612	broad.mit.edu	37	9	90321930	90321930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:90321930G>A	ENST00000469640.2	+	27	4394	c.4019G>A	c.(4018-4020)cGc>cAc	p.R1340H	DAPK1_ENST00000408954.3_Missense_Mutation_p.R1315H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1315H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1249H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1315H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1315	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACTGAGTCGCCTGCTGGAC	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of				44	66					0	0	0.002522	0	0
OR5B3	441608	broad.mit.edu	37	11	58170806	58170806	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:58170806A>G	ENST00000309403.2	-	1	76	c.77T>C	c.(76-78)tTt>tCt	p.F26S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACGTTATAAAGAGGGGAAC	0.413000													24	68					0	0	0.003954	0	0
BRWD1	54014	broad.mit.edu	37	21	40578121	40578121	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:40578121T>C	ENST00000342449.3	-	37	4355	c.4277A>G	c.(4276-4278)cAa>cGa	p.Q1426R	BRWD1_ENST00000380800.3_Missense_Mutation_p.Q1426R|BRWD1_ENST00000333229.2_Missense_Mutation_p.Q1426R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGAATTTTTGACCAATTTT	0.318000													62	30					0	0	0.003610	0	0
IL26	55801	broad.mit.edu	37	12	68595635	68595635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:68595635C>T	ENST00000229134.4	-	5	570	c.506G>A	c.(505-507)aGc>aAc	p.S169N	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	169					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGACTGCTTTCCAATAA	0.294000													19	30					0	0	0.001216	0	0
HSPA4L	22824	broad.mit.edu	37	4	128726265	128726265	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:128726265A>T	ENST00000296464.3	+	9	1434	c.1023A>T	c.(1021-1023)gtA>gtT	p.V341V	HSPA4L_ENST00000508776.1_Silent_p.V341V|HSPA4L_ENST00000439123.2_Silent_p.V372V|HSPA4L_ENST00000505726.1_Silent_p.V315V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	341					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGAAATTGTAGGAGGAGCAA	0.328000													20	15					0	0	0.002299	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482322	233482322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:233482322G>A	ENST00000366624.3	+	2	1201	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	MLK4_ENST00000366623.3_Missense_Mutation_p.E314K	NM_032435.2	NP_115811.2												p.E314K(1)									GATGGCCCCCGAAGTGATCAA	0.473000													5	26					0	0	0.000602	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533100	94533100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:94533100G>T	ENST00000433060.2	+	3	885	c.744G>T	c.(742-744)gaG>gaT	p.E248D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E198D|AMOTL1_ENST00000317837.9_Missense_Mutation_p.E248D	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	248						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATAAGGACGAGGCGCTGAAGG	0.612000													11	47					1.08611e-07	1.70078e-07	0.000978	1	0
REC8	9985	broad.mit.edu	37	14	24641797	24641797	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:24641797C>T	ENST00000311457.3	+	2	635	c.36C>T	c.(34-36)acC>acT	p.T12T	REC8_ENST00000559919.1_Silent_p.T12T			O95072	REC8_HUMAN	REC8 meiotic recombination protein	12					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCCACACCGGCTGCTTTG	0.612000													8	44					0	0	0.004482	0	0
TAF4	6874	broad.mit.edu	37	20	60574130	60574130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:60574130C>A	ENST00000252996.3	-	12	2821	c.2822G>T	c.(2821-2823)cGg>cTg	p.R941L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	941					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGCTGTGCCCGGACGTCACT	0.483000													108	467					2.21197e-46	4.5105e-46	0.003610	1	0
RHOD	29984	broad.mit.edu	37	11	66834226	66834226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:66834226C>T	ENST00000308831.2	+	3	323	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80C	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	80					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGACTATGACCGCCTGCGGCC	0.592000													31	115					0	0	0.002445	0	0
CDK9	1025	broad.mit.edu	37	9	130550933	130550933	+	Missense_Mutation	SNP	G	G	A	rs11554104		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:130550933G>A	ENST00000373265.2	+	6	1066	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	CDK9_ENST00000373264.4_Missense_Mutation_p.A239T			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	239					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GCACCAACTCGCCCTCATCAG	0.672000													9	24					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716919	142716919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:142716919C>T	ENST00000381779.4	-	2	2231	c.2006G>A	c.(2005-2007)aGg>aAg	p.R669K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R669K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R669K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	669						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATGCTTCCTTAGCTGCAG	0.473000													40	138					0	0	0.001951	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898472	47898472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:47898472C>G	ENST00000289672.2	-	27	4211	c.4161G>C	c.(4159-4161)atG>atC	p.M1387I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1387	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAACCGCACTCATAAAGCCTA	0.498000													9	26					0	0	0.004482	0	0
GALNT8	26290	broad.mit.edu	37	12	4835951	4835951	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:4835951C>T	ENST00000252318.2	+	2	802	c.465C>T	c.(463-465)aaC>aaT	p.N155N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	155						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACCTCAGCAACCAGCTGCCTC	0.567000													37	76					0	0	0.007835	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217975	36217975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:36217975T>C	ENST00000258840.6	-	10	1457	c.1067A>G	c.(1066-1068)aAa>aGa	p.K356R	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.K356R|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.K356R|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.K356R			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	356					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTGTCTGTTTTATCAGCATT	0.353000													16	84					0	0	0.006122	0	0
KIF21A	55605	broad.mit.edu	37	12	39716684	39716684	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:39716684C>A	ENST00000395670.3	-	26	3876	c.3456_splice	c.e26-1	p.A1153_splice	KIF21A_ENST00000544797.2_Splice_Site_p.A1133_splice|KIF21A_ENST00000541463.2_Splice_Site_p.A1117_splice|KIF21A_ENST00000361418.5_Splice_Site_p.A1153_splice|KIF21A_ENST00000361961.3_Splice_Site_p.A1140_splice			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1153					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCCTTCGGGCCTAGTCAAAG	0.433000													23	73					3.62473e-10	6.0177e-10	0.001882	1	0
LRP1	4035	broad.mit.edu	37	12	57578167	57578167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:57578167G>A	ENST00000243077.3	+	38	6584	c.6118G>A	c.(6118-6120)Ggc>Agc	p.G2040S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2040					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCTAGATGGCACGGAGCG	0.597000													27	49					0	0	0.005443	0	0
RIMS4	140730	broad.mit.edu	37	20	43399968	43399968	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:43399968C>G	ENST00000372851.3	-	2	250	c.184G>C	c.(184-186)Gcc>Ccc	p.A62P	RIMS4_ENST00000541604.2_Missense_Mutation_p.A63P	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	62					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCGTGGCTGGCCTGGCGCAGT	0.627000													15	89					0	0	0.002450	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147483	62147483	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:62147483G>T	ENST00000416284.3	-	4	1888	c.304C>A	c.(304-306)Cta>Ata	p.L102I	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.L5I|FAM19A2_ENST00000551619.1_Missense_Mutation_p.L102I	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	102						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCTCCCTCTAGACATGGCTGC	0.403000													37	79					6.03168e-27	1.1861e-26	0.004878	1	0
TRHDE	29953	broad.mit.edu	37	12	72771839	72771839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:72771839C>G	ENST00000261180.4	+	3	1214	c.1118C>G	c.(1117-1119)aCa>aGa	p.T373R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	373					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTCCATATAACAAAGAGATTA	0.333000													21	88					0	0	0.001882	0	0
FBXO21	23014	broad.mit.edu	37	12	117628083	117628083	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:117628083C>A	ENST00000427718.2	-	1	253	c.179G>T	c.(178-180)cGg>cTg	p.R60L	FBXO21_ENST00000330622.5_Missense_Mutation_p.R60L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	60	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCGCAGCCGCCGGCAGGTGCT	0.721000													5	12					5.9392e-07	9.19302e-07	0.001168	1	0
MEGF10	84466	broad.mit.edu	37	5	126738373	126738373	+	Splice_Site	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:126738373C>T	ENST00000274473.6	+	9	1183	c.917_splice	c.e9+1	p.R306_splice	MEGF10_ENST00000503335.2_Splice_Site_p.R306_splice|MEGF10_ENST00000418761.2_Splice_Site_p.R306_splice|MEGF10_ENST00000508365.1_Splice_Site_p.R306_splice	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	306	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CACAGGGGAACGGTAAGGGAT	0.478000													33	26					0	0	0.003271	0	0
C12orf66	144577	broad.mit.edu	37	12	64587735	64587735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:64587735C>T	ENST00000311915.8	-	3	1252	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	C12orf66_ENST00000398055.3_Missense_Mutation_p.E409K|C12orf66_ENST00000544871.1_Missense_Mutation_p.E356K			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	409										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TTCTTTGACTCAAAAATGATG	0.443000													55	112					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103444450	103444450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:103444450C>A	ENST00000358392.2	-	34	3028	c.2711G>T	c.(2710-2712)gGt>gTt	p.G904V	COL11A1_ENST00000370096.3_Missense_Mutation_p.G892V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G853V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G776V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	892	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCTTGCACCTCTTGAACC	0.403000													38	25					8.69298e-16	1.58948e-15	0.006999	1	0
DLC1	10395	broad.mit.edu	37	8	13356615	13356615	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:13356615C>T	ENST00000276297.4	-	2	1375	c.966G>A	c.(964-966)aaG>aaA	p.K322K	DLC1_ENST00000316609.5_Silent_p.K322K|DLC1_ENST00000511869.1_Silent_p.K322K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	322					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGGGTCTCCTTTAATTGTA	0.428000													16	44					0	0	0.003163	0	0
UNC79	57578	broad.mit.edu	37	14	94044388	94044388	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:94044388G>T	ENST00000553484.1	+	18	2566	c.2412G>T	c.(2410-2412)atG>atT	p.M804I	UNC79_ENST00000555664.1_Missense_Mutation_p.M804I|UNC79_ENST00000393151.2_Missense_Mutation_p.M804I|UNC79_ENST00000256339.4_Missense_Mutation_p.M627I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	804						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCATCCTCATGTTTGATCTTC	0.403000													6	68					0.00198382	0.0027815	0.001984	1	0
SLK	9748	broad.mit.edu	37	10	105762811	105762811	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:105762811G>T	ENST00000369755.3	+	9	2420	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	SLK_ENST00000335753.4_Missense_Mutation_p.E625D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	625	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAGTTCAGAGAACATAATGG	0.388000													10	24					3.86212e-05	5.60785e-05	0.000673	1	0
GRIA4	2893	broad.mit.edu	37	11	105774688	105774688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:105774688T>C	ENST00000393127.2	+	8	1480	c.1034T>C	c.(1033-1035)aTg>aCg	p.M345T	GRIA4_ENST00000530497.1_Missense_Mutation_p.M345T|GRIA4_ENST00000525187.1_Missense_Mutation_p.M345T|GRIA4_ENST00000428631.2_Missense_Mutation_p.M345T|GRIA4_ENST00000393125.2_Missense_Mutation_p.M345T|GRIA4_ENST00000282499.5_Missense_Mutation_p.M345T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	345					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAATTGACATGGAGAGGACA	0.398000													18	76					0	0	0.007413	0	0
NUDT7	283927	broad.mit.edu	37	16	77759434	77759434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:77759434G>T	ENST00000268533.5	+	2	211	c.142G>T	c.(142-144)Gct>Tct	p.A48S	NUDT7_ENST00000564085.1_Missense_Mutation_p.A48S|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000568787.1_Missense_Mutation_p.A48S|NUDT7_ENST00000437314.3_Missense_Mutation_p.A48S	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	48	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GCCATTGGTGGCTAAAGAAGG	0.428000													12	50					0.00136819	0.00192409	0.001368	1	0
TMC5	79838	broad.mit.edu	37	16	19488760	19488760	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:19488760A>T	ENST00000396229.2	+	13	2839		c.e13-1		TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000564959.1_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTCTGTTTAGAAACATCTT	0.398000													15	48					0	0	0.002450	0	0
STX4	6810	broad.mit.edu	37	16	31049253	31049253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:31049253G>C	ENST00000394998.1	+	7	722	c.379G>C	c.(379-381)Gtc>Ctc	p.V127L	STX4_ENST00000313843.3_Missense_Mutation_p.V129L|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	129					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTAGCATGGGGTCCTGTCCCA	0.537000													21	83					0	0	0.001216	0	0
CA3	761	broad.mit.edu	37	8	86351950	86351950	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:86351950A>T	ENST00000285381.2	+	2	127	c.44A>T	c.(43-45)cAc>cTc	p.H15L		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	15					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCCTGACCACTGGCATGAA	0.473000													9	25					0	0	0.004482	0	0
FMO3	2328	broad.mit.edu	37	1	171077253	171077253	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:171077253G>T	ENST00000367755.4	+	5	629	c.518G>T	c.(517-519)aGc>aTc	p.S173I	FMO3_ENST00000542847.1_Missense_Mutation_p.S153I|FMO3_ENST00000538429.1_Missense_Mutation_p.S110I|FMO3_ENST00000392085.2_Missense_Mutation_p.S173I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	173					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTTCCACAGCAGGGACTAT	0.438000													29	57					3.73148e-12	6.38709e-12	0.007291	1	0
LOC101927905	101927905	broad.mit.edu	37	12	8388208	8388208	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:8388208G>A	ENST00000304751.9	+	0	198				FAM86FP_ENST00000427893.2_RNA																							TGTTAGTGAAGGCTGCTGGGT	0.622000													12	45					0	0	0.002450	0	0
ACO2	50	broad.mit.edu	37	22	41922444	41922444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:41922444C>G	ENST00000396512.3	+	15	2032	c.2015C>G	c.(2014-2016)gCc>gGc	p.A672G	ACO2_ENST00000216254.4_Missense_Mutation_p.A647G|POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	647					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTGACACTGCCCGCTACTAC	0.577000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	100					0	0	0.001951	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485323	110485323	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:110485323G>C	ENST00000260283.4	-	7	876	c.592C>G	c.(592-594)Ctc>Gtc	p.L198V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L175V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L172V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L172V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	198	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGATTTTGAGGGGAATGCTC	0.413000													10	35					0	0	0.000673	0	0
BRAF	673	broad.mit.edu	37	7	140482832	140482832	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:140482832T>G	ENST00000288602.6	-	10	1363	c.1303A>C	c.(1303-1305)Agg>Cgg	p.R435R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	435					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTCGATTCCTGTCTTCTGAG	0.388000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	30					0	0	0.004007	0	0
EHMT2	10919	broad.mit.edu	37	6	31854582	31854582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:31854582C>T	ENST00000395728.3	-	16	2381	c.2382G>A	c.(2380-2382)atG>atA	p.M794I	EHMT2_ENST00000375528.4_Missense_Mutation_p.M760I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.M703I|EHMT2_ENST00000375537.4_Missense_Mutation_p.M737I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	737					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGCTGCACCATGTAACGGG	0.622000													35	158					0	0	0.004878	0	0
MAD1L1	8379	broad.mit.edu	37	7	1937910	1937910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:1937910C>T	ENST00000406869.1	-	18	2481	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	MAD1L1_ENST00000402746.1_Missense_Mutation_p.D550N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D642N|MAD1L1_ENST00000265854.7_Missense_Mutation_p.D642N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	642					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTGGTGATGTCGATCTGGTAG	0.612000													18	38					0	0	0.006122	0	0
SCN10A	6336	broad.mit.edu	37	3	38793848	38793848	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:38793848C>G	ENST00000449082.2	-	11	1616	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	539					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCCCCACCCAGCAGCAGAG	0.607000													24	20					0	0	0.002780	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050778	81050778	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:81050778G>C	ENST00000334512.5	+	10	1175	c.603G>C	c.(601-603)gcG>gcC	p.A201A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	201					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCATGGCGTCGGGCATGA	0.617000													12	110					0	0	0.002450	0	0
LRRN4	164312	broad.mit.edu	37	20	6021815	6021815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:6021815G>T	ENST00000378858.4	-	5	2300	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	692						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGAGCAACAGGCCGCTGGCGG	0.697000													4	17					2.56e-06	3.84205e-06	0.000248	1	0
HEATR5B	54497	broad.mit.edu	37	2	37235842	37235842	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:37235842T>C	ENST00000233099.5	-	28	4529	c.4434A>G	c.(4432-4434)ccA>ccG	p.P1478P	HEATR5B_ENST00000354531.2_Silent_p.P1478P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1478							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACTGAGTGTTGGTAGTTCAG	0.413000													12	79					0	0	0.000978	0	0
APOL6	80830	broad.mit.edu	37	22	36054987	36054987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:36054987G>A	ENST00000409652.3	+	3	652	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	126					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CACCAGCATCGTGAGTGGTAC	0.577000													11	51					0	0	0.001368	0	0
ZFP28	140612	broad.mit.edu	37	19	57066324	57066324	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:57066324A>G	ENST00000301318.3	+	8	2241	c.2170A>G	c.(2170-2172)Act>Gct	p.T724A	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGACTGCACACTGGCCAAAG	0.413000													19	59					0	0	0.007413	0	0
PNPLA6	10908	broad.mit.edu	37	19	7626150	7626150	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:7626150A>T	ENST00000221249.6	+	34	4287	c.3856A>T	c.(3856-3858)Agg>Tgg	p.R1286W	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1324W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1259W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1286W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1334W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1325					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGACTGCTCGAGGGATGAAGG	0.657000													5	21					0	0	0.001984	0	0
EXOC6B	23233	broad.mit.edu	37	2	72722617	72722617	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:72722617T>A	ENST00000272427.6	-	15	1625	c.1495A>T	c.(1495-1497)Aac>Tac	p.N499Y	EXOC6B_ENST00000410104.1_Missense_Mutation_p.N499Y	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	499					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTAATTTGGTTGTAAACTTTT	0.313000													3	19					0	0	0.000248	0	0
LSR	51599	broad.mit.edu	37	19	35757268	35757268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:35757268C>T	ENST00000602122.1	+	5	1359	c.872C>T	c.(871-873)gCc>gTc	p.A291V	LSR_ENST00000354900.3_Missense_Mutation_p.A291V|LSR_ENST00000427250.1_Missense_Mutation_p.A154V|LSR_ENST00000360798.3_Missense_Mutation_p.A242V|LSR_ENST00000347609.4_Missense_Mutation_p.A273V|LSR_ENST00000361790.3_Missense_Mutation_p.A310V			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	310	Cys-rich.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	p.A310V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAGTGTATGCCGCCGGCAAA	0.617000													5	174					0	0	0.000602	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589218	140589218	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:140589218T>G	ENST00000239450.2	+	1	928	c.739T>G	c.(739-741)Tat>Gat	p.Y247D	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		247	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTTTATGAGGTGAA	0.502000													97	56					0	0	0.003610	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089499	43089499	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:43089499T>C	ENST00000359467.3	-	5	1013	c.899A>G	c.(898-900)cAc>cGc	p.H300R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAATCATAGTGTTTCACAGG	0.383000													23	57					0	0	0.002299	0	0
TREML2	79865	broad.mit.edu	37	6	41165984	41165984	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:41165984T>C	ENST00000483722.1	-	2	424	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	80	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCATCGTCCTGCAGCAAGTA	0.582000													22	108					0	0	0.002299	0	0
C10orf2	56652	broad.mit.edu	37	10	102749399	102749399	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:102749399A>T	ENST00000370228.1	+	2	1428		c.e2-1		C10orf2_ENST00000473656.1_Splice_Site|C10orf2_ENST00000311916.2_Splice_Site	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2						cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCCCACTGCAGGGCCAACAG	0.537000													18	62					0	0	0.006122	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253851	36253851	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:36253851G>T	ENST00000296604.3	-	12	1550	c.1065C>A	c.(1063-1065)agC>agA	p.S355R	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S380R	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	355	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCCAGAGTTTGCTGTTGAGGA	0.388000													14	120					8.60227e-14	1.52244e-13	0.004007	1	0
SCGN	10590	broad.mit.edu	37	6	25670229	25670229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:25670229C>A	ENST00000377961.2	+	6	564	c.396C>A	c.(394-396)aaC>aaA	p.N132K	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	132	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCACAGAACTTCCTCCGAG	0.398000													42	170					1.41504e-22	2.71988e-22	0.002852	1	0
CCR7	1236	broad.mit.edu	37	17	38711638	38711638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:38711638G>A	ENST00000246657.2	-	3	555	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	CCR7_ENST00000579344.1_Missense_Mutation_p.H159Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	165					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGGTGGCGGTGAGCTGAGACA	0.552000													5	31					0	0	0.000602	0	0
PTPN13	5783	broad.mit.edu	37	4	87728986	87728986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:87728986C>G	ENST00000436978.1	+	45	7514	c.7034C>G	c.(7033-7035)gCt>gGt	p.A2345G	PTPN13_ENST00000411767.2_Missense_Mutation_p.A2340G|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2321G|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2345G|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2149G	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2340	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCGACTGGCTCTTGTGAGA	0.448000													24	90					0	0	0.005443	0	0
ARRDC4	91947	broad.mit.edu	37	15	98513117	98513117	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:98513117A>G	ENST00000268042.6	+	6	1051	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	ARRDC4_ENST00000538249.1_Missense_Mutation_p.Y209C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	296					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TATTAGGTATACATTCACATT	0.353000													10	37					0	0	0.006214	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261232	30261232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:30261232C>T	ENST00000378982.2	+	1	1176	c.980C>T	c.(979-981)aCt>aTt	p.T327I		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	327										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGGCGTGGCACTACAGCCATG	0.517000													14	69					0	0	0.001855	0	0
USP6	9098	broad.mit.edu	37	17	5050447	5050447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:5050447G>A	ENST00000574788.1	+	29	4619	c.2389G>A	c.(2389-2391)Gtc>Atc	p.V797I	USP6_ENST00000304328.5_Missense_Mutation_p.V480I|USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Missense_Mutation_p.V797I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	797					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			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						TGAAATTCCTGTCCCTTCATC	0.398000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								17	39					0	0	0.004007	0	0
ZNF184	7738	broad.mit.edu	37	6	27419371	27419371	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:27419371T>A	ENST00000211936.6	-	6	2251	c.1967A>T	c.(1966-1968)cAt>cTt	p.H656L	ZNF184_ENST00000377419.1_Missense_Mutation_p.H656L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGAGTTAGATGGGAGCTCTG	0.423000													18	79					0	0	0.004990	0	0
DIAPH2	1730	broad.mit.edu	37	X	96396710	96396710	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:96396710T>C	ENST00000324765.8	+	22	2983	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DIAPH2_ENST00000373061.3_Missense_Mutation_p.F879S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.F879S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.F879S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.F875S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	879	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTTTGCATTTTATTGCCGAC	0.308000													12	21					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13807803	13807803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:13807803G>T	ENST00000265104.4	-	47	7888	c.7784C>A	c.(7783-7785)gCc>gAc	p.A2595D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2595	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACTGTTTTGGCTGTTCCTTG	0.358000									Kartagener syndrome				7	18					5.18039e-06	7.71303e-06	0.003080	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299776	125299776	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:125299776C>T	ENST00000538699.1	-	2	212	c.132G>A	c.(130-132)cgG>cgA	p.R44R	DCAF12L2_ENST00000360028.2_Silent_p.R44R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	44										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGTCGCCGGCCGCTTCTGCT	0.731000													44	3					0	0	0.002852	0	0
ZIC4	84107	broad.mit.edu	37	3	147114155	147114155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:147114155G>A	ENST00000383075.3	-	3	684	c.172C>T	c.(172-174)Cct>Tct	p.P58S	ZIC4_ENST00000525172.2_Missense_Mutation_p.P108S|ZIC4_ENST00000484399.1_Missense_Mutation_p.P58S|ZIC4_ENST00000473123.1_Missense_Mutation_p.P58S|ZIC4_ENST00000425731.3_Missense_Mutation_p.P96S|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	58						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCATTCAAAGGACGGCTGGGG	0.726000													12	39					0	0	0.001368	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346550	70346550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:70346550C>A	ENST00000305107.6	-	6	1435	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.W327C|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	463					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAATTCAATCCAGAAGACTG	0.448000													74	131					6.72169e-28	1.32736e-27	0.003610	1	0
SLC12A3	6559	broad.mit.edu	37	16	56899255	56899255	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:56899255C>T	ENST00000438926.2	+	1	137	c.108C>T	c.(106-108)gcC>gcT	p.A36A	SLC12A3_ENST00000566786.1_Silent_p.A36A|SLC12A3_ENST00000563236.1_Silent_p.A36A|SLC12A3_ENST00000262502.5_Silent_p.A36A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	36					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CACCAGCTGCCTATGACAGCA	0.597000													35	162					0	0	0.005524	0	0
ATP10A	57194	broad.mit.edu	37	15	26026179	26026179	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:26026179C>G	ENST00000356865.6	-	2	752	c.641G>C	c.(640-642)gGc>gCc	p.G214A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	214					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCCGAGAAGCCGCGGACCAC	0.612000													13	68					0	0	0.002450	0	0
ZNF462	58499	broad.mit.edu	37	9	109691031	109691031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:109691031C>T	ENST00000277225.5	+	3	5127	c.4838C>T	c.(4837-4839)cCg>cTg	p.P1613L	ZNF462_ENST00000441147.2_Missense_Mutation_p.P458L|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1613L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1613					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1613L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTCGCCCCCGAAGCTGCCA	0.537000													24	123					0	0	0.003330	0	0
NOS1	4842	broad.mit.edu	37	12	117662875	117662875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:117662875T>C	ENST00000317775.6	-	25	4457	c.3772A>G	c.(3772-3774)Att>Gtt	p.I1258V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.I1292V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1258					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGGGGCAATGCCGGTGCCT	0.602000													86	133					0	0	0.003610	0	0
WDR24	84219	broad.mit.edu	37	16	737322	737322	+	Missense_Mutation	SNP	C	C	T	rs145838196	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:737322C>T	ENST00000293883.4	-	3	1513	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	WDR24_ENST00000248142.6_Missense_Mutation_p.A382T	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	338										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCACCGAGGCGATGGTCTGC	0.637000													21	59					0	0	0.002299	0	0
HOMER3	9454	broad.mit.edu	37	19	19042356	19042356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:19042356G>T	ENST00000539827.1	-	7	1421	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	HOMER3_ENST00000542541.2_Missense_Mutation_p.L257M|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000433218.2_Missense_Mutation_p.L257M|HOMER3_ENST00000392351.3_Missense_Mutation_p.L257M|HOMER3_ENST00000594794.1_Missense_Mutation_p.L48M|HOMER3_ENST00000594439.1_Missense_Mutation_p.L221M|HOMER3_ENST00000221222.11_Missense_Mutation_p.L257M|HOMER3_ENST00000355887.6_Missense_Mutation_p.L257M			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	257					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			AGCTGTTCCAGCGACTGGCCC	0.637000													43	91					7.53189e-24	1.47186e-23	0.007835	1	0
CTNND2	1501	broad.mit.edu	37	5	11159792	11159792	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:11159792C>T	ENST00000304623.8	-	12	2244	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CTNND2_ENST00000511377.1_Silent_p.A594A|CTNND2_ENST00000458100.2_Silent_p.A252A|CTNND2_ENST00000359640.2_Silent_p.A685A|CTNND2_ENST00000503622.1_Silent_p.A348A|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATAATCACCGCGTTGGTCA	0.522000													21	169					0	0	0.001882	0	0
VN1R2	317701	broad.mit.edu	37	19	53761833	53761833	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:53761833G>C	ENST00000341702.3	+	1	289	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	69					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctttgtcttgtgtctttatt	0.512000													4	7					0	0	0.000248	0	0
LAT2	7462	broad.mit.edu	37	7	73638999	73638999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:73638999C>T	ENST00000460943.1	+	13	1548	c.659C>T	c.(658-660)cCg>cTg	p.P220L	LAT2_ENST00000275635.7_Missense_Mutation_p.P220L|LAT2_ENST00000344995.5_Missense_Mutation_p.P220L|LAT2_ENST00000398475.1_Missense_Mutation_p.P220L	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	220					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCCCCTGGCCCGGTGGGAAGC	0.612000													6	6					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179419418	179419418	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179419418G>T	ENST00000589042.1	-	332	88880	c.88656C>A	c.(88654-88656)acC>acA	p.T29552T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.T27911T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T20612T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T20487T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.T26984T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T20679T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27911	Fibronectin type-III 115.						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)			GCCAGAGAAGGGTGATCTTCT	0.473000													61	82					3.84483e-29	7.67331e-29	0.003610	1	0
RBFOX2	23543	broad.mit.edu	37	22	36140242	36140242	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:36140242T>G	ENST00000405409.2	-	12	1472	c.1104A>C	c.(1102-1104)tgA>tgC	p.*368C	RBFOX2_ENST00000449924.2_3'UTR|RBFOX2_ENST00000359369.4_Nonstop_Mutation_p.*371C|RBFOX2_ENST00000416721.2_3'UTR|RBFOX2_ENST00000414461.2_Nonstop_Mutation_p.*371C|RBFOX2_ENST00000262829.7_3'UTR|RBFOX2_ENST00000397303.2_3'UTR	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	p.*368C(1)		endometrium(4)|large_intestine(7)|lung(7)	18						TGCAGGGGTCTCACGTCACTT	0.438000													4	42					0	0	0.000248	0	0
AMOT	154796	broad.mit.edu	37	X	112054479	112054479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:112054479C>A	ENST00000371959.3	-	3	1534	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	AMOT_ENST00000524145.1_Missense_Mutation_p.R512I|AMOT_ENST00000371962.1_Missense_Mutation_p.R280I|AMOT_ENST00000371958.1_Missense_Mutation_p.R280I|AMOT_ENST00000304758.1_Missense_Mutation_p.R103I	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	512					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCCTCACCTCTCAGATCCCT	0.512000													86	77					6.11831e-30	1.22366e-29	0.003610	1	0
DUSP4	1846	broad.mit.edu	37	8	29207392	29207392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:29207392G>A	ENST00000240100.2	-	1	793	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	135	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GGTGCGCTCGGCGTTGCGGCG	0.687000													13	16					0	0	0.006122	0	0
OR56A4	120793	broad.mit.edu	37	11	6023944	6023944	+	Missense_Mutation	SNP	C	C	A	rs144089765		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:6023944C>A	ENST00000330728.4	-	1	480	c.435G>T	c.(433-435)agG>agT	p.R145S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGATCGACCTGAGGTCAA	0.547000													27	61					2.79863e-10	4.66273e-10	0.004656	1	0
RYR2	6262	broad.mit.edu	37	1	237796940	237796940	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:237796940A>T	ENST00000366574.2	+	43	6935	c.6618A>T	c.(6616-6618)atA>atT	p.I2206I	RYR2_ENST00000542537.1_Silent_p.I2190I|RYR2_ENST00000360064.6_Silent_p.I2204I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2206	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTCGTATAAGTAGGCAGA	0.373000													49	125					0	0	0.003610	0	0
C4A	720	broad.mit.edu	37	6	31962428	31962428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:31962428C>T	ENST00000428956.2	+	21	2830	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	C4A_ENST00000498271.1_Nonsense_Mutation_p.R916*	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGTGGTGGCTCGAGGGTCCTT	0.637000													23	71					0	0	0.002096	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687888	68687888	+	Missense_Mutation	SNP	G	G	T	rs150432500		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:68687888G>T	ENST00000361320.4	+	2	1792	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	405						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGAGCCCGGCCCAGAGACC	0.617000													23	56					3.5997e-14	6.39492e-14	0.002299	1	0
CREB5	9586	broad.mit.edu	37	7	28844011	28844011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:28844011C>T	ENST00000357727.2	+	8	1288	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	CREB5_ENST00000396300.2_Missense_Mutation_p.H293Y|CREB5_ENST00000396298.2_Missense_Mutation_p.H161Y|CREB5_ENST00000409603.1_Missense_Mutation_p.H267Y|CREB5_ENST00000396299.2_Missense_Mutation_p.H267Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	300					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						cccagcacaccatcctcaccc	0.602000													22	22					0	0	0.001523	0	0
UBD	10537	broad.mit.edu	37	6	29524075	29524075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:29524075T>C	ENST00000377050.4	-	2	303	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	27	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CACGCTGTCATATGGGTTGGC	0.488000													20	50					0	0	0.001882	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899257	56899257	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:56899257A>T	ENST00000438926.2	+	1	139	c.110A>T	c.(109-111)tAt>tTt	p.Y37F	SLC12A3_ENST00000566786.1_Missense_Mutation_p.Y37F|SLC12A3_ENST00000563236.1_Missense_Mutation_p.Y37F|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Y37F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	37					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGCTGCCTATGACAGCAGC	0.597000													38	164					0	0	0.007835	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853353	70853353	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:70853353G>A	ENST00000333538.5	+	3	1189	c.555G>A	c.(553-555)aaG>aaA	p.K185K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	185	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCTGAAGGAAATCATTC	0.542000													17	27					0	0	0.007413	0	0
LUZP2	338645	broad.mit.edu	37	11	25004816	25004816	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:25004816C>A	ENST00000533227.1	+	9	771	c.484C>A	c.(484-486)Cca>Aca	p.P162T	LUZP2_ENST00000336930.6_Missense_Mutation_p.P248T	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	248						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTAAGCTTCCAGATGCAGC	0.428000													15	44					1.99824e-07	3.11871e-07	0.004990	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984215	140984215	+	Splice_Site	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:140984215A>G	ENST00000544766.1	+	4	382		c.e4-1		MAGEC3_ENST00000483584.1_Splice_Site|MAGEC3_ENST00000443323.2_Splice_Site|MAGEC3_ENST00000409007.1_Intron|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTCCTACAGGTTCTGAGG	0.572000													13	12					0	0	0.001855	0	0
CXCR1	3577	broad.mit.edu	37	2	219029140	219029140	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:219029140G>T	ENST00000295683.2	-	2	915	c.795C>A	c.(793-795)gaC>gaA	p.D265E		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	265					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TCATGAGGGTGTCTGCCAGCA	0.592000													31	98					1.75199e-13	3.08323e-13	0.007291	1	0
APBA1	320	broad.mit.edu	37	9	72073080	72073080	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:72073080T>C	ENST00000265381.4	-	6	1729	c.1507A>G	c.(1507-1509)Agg>Ggg	p.R503G	APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	503	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTTCTTCCTGCTTTTGGCT	0.368000													8	54					0	0	0.000673	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740206	33740206	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:33740206G>C	ENST00000403687.3	+	3	743	c.3G>C	c.(1-3)atG>atC	p.M1I	RASGRP3_ENST00000407811.1_Start_Codon_SNP_p.M1I|RASGRP3_ENST00000402538.3_Start_Codon_SNP_p.M1I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	1					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAATAACCATGGGATCAAGTG	0.428000													20	89					0	0	0.001882	0	0
POLR1B	84172	broad.mit.edu	37	2	113316883	113316883	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:113316883A>G	ENST00000263331.5	+	9	1924	c.1344A>G	c.(1342-1344)ctA>ctG	p.L448L	POLR1B_ENST00000417433.2_Silent_p.L392L|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000541869.1_Silent_p.L486L|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.L237L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	448					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGGCCTCCTACAAGATTCTG	0.433000													62	215					0	0	0.003610	0	0
S100A7	6278	broad.mit.edu	37	1	153430420	153430420	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:153430420G>T	ENST00000368723.3	-	3	278	c.168C>A	c.(166-168)gcC>gcA	p.A56A	S100A7_ENST00000368722.1_Silent_p.A56A	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	56	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGACATCGGCGAGGTAAT	0.413000													19	51					3.51602e-12	6.02929e-12	0.001216	1	0
PTPRF	5792	broad.mit.edu	37	1	44054597	44054597	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:44054597G>T	ENST00000359947.4	+	8	1215	c.875G>T	c.(874-876)cGc>cTc	p.R292L	PTPRF_ENST00000438120.1_Missense_Mutation_p.R292L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R292L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R292L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	292	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AATGTCGTACGCTCTGCCAAC	0.597000													5	16					4.096e-09	6.65866e-09	0.001168	1	0
ABT1	29777	broad.mit.edu	37	6	26598238	26598238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:26598238G>A	ENST00000274849.1	+	2	369	c.338G>A	c.(337-339)cGt>cAt	p.R113H		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	113	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTGGAGTTCCGTGACAAGCGC	0.597000													11	44					0	0	0.000673	0	0
CSMD3	114788	broad.mit.edu	37	8	114111075	114111075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:114111075C>T	ENST00000297405.5	-	5	1071	c.827G>A	c.(826-828)gGg>gAg	p.G276E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G276E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.G276E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G236E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGTGTCCCCAGGCTCTGC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	24					0	0	0.006122	0	0
ARID5B	84159	broad.mit.edu	37	10	63851213	63851213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:63851213G>T	ENST00000279873.7	+	10	2401	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V	ARID5B_ENST00000309334.5_Missense_Mutation_p.G421V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	664					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCTGACTGGGCCCATGAAC	0.532000													8	31					0.00307968	0.00430513	0.003080	1	0
LSAMP	4045	broad.mit.edu	37	3	115560725	115560725	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:115560725G>C	ENST00000490035.1	-	6	1385	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	LSAMP_ENST00000539563.1_Missense_Mutation_p.L293V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	296	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTGACCCCCAGCTTGTTGGCA	0.502000													12	91					0	0	0.001855	0	0
ALPP	250	broad.mit.edu	37	2	233244620	233244620	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:233244620C>A	ENST00000392027.2	+	5	900	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	211						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			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)		CATCGCTACGCAGCTCATCTC	0.672000													16	85					4.96729e-08	7.88379e-08	0.001216	1	0
BFSP1	631	broad.mit.edu	37	20	17492691	17492691	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:17492691T>C	ENST00000377873.3	-	4	596	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	BFSP1_ENST00000377868.2_Missense_Mutation_p.Y61C|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y47C|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y47C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	186	Linker 12.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GATGCTGATATAGGTCTGAAC	0.463000													34	41					0	0	0.004878	0	0
TRPM8	79054	broad.mit.edu	37	2	234862641	234862641	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:234862641C>T	ENST00000324695.4	+	10	1261	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	TRPM8_ENST00000433712.2_Silent_p.A95A|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	407						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGAGCAATGCCATCTCCTACG	0.368000													24	8					0	0	0.003330	0	0
CDRT1	374286	broad.mit.edu	37	17	15517267	15517267	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:15517267C>G	ENST00000455584.2	-	9	1724	c.1681G>C	c.(1681-1683)Ggg>Cgg	p.G561R	CDRT1_ENST00000395906.3_Missense_Mutation_p.G251R																							GGATCGTACCCTGGCTTGGTT	0.478000													8	121					0	0	0.003080	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808770	18808770	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:18808770T>C	ENST00000400664.1	+	1	1347	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	432						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGATCTGGGCAATTGC	0.612000													72	40					0	0	0.003610	0	0
BNC2	54796	broad.mit.edu	37	9	16437438	16437438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:16437438C>T	ENST00000380672.4	-	6	811	c.754G>A	c.(754-756)Gga>Aga	p.G252R	BNC2_ENST00000380666.2_Missense_Mutation_p.G252R|BNC2_ENST00000545497.1_Missense_Mutation_p.G157R|BNC2_ENST00000380667.2_Missense_Mutation_p.G185R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGGTTTCTCCAAACCGCAGA	0.502000													23	65					0	0	0.001882	0	0
PLSCR4	57088	broad.mit.edu	37	3	145913025	145913025	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:145913025C>T	ENST00000354952.2	-	8	1071	c.831G>A	c.(829-831)cgG>cgA	p.R277R	PLSCR4_ENST00000493382.1_Silent_p.R277R|PLSCR4_ENST00000446574.2_Silent_p.R277R|PLSCR4_ENST00000433593.2_Silent_p.R172R|PLSCR4_ENST00000383083.2_Silent_p.R187R	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	277					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATTCCACTTCCGGATAATAC	0.413000													7	78					0	0	0.003080	0	0
KLHL32	114792	broad.mit.edu	37	6	97562042	97562042	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:97562042C>T	ENST00000369261.4	+	7	1374	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	KLHL32_ENST00000539200.1_Silent_p.S268S|KLHL32_ENST00000536676.1_Silent_p.S301S|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	337										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGGAAGGAGCCACCATTGTG	0.562000													16	70					0	0	0.003163	0	0
PIGR	5284	broad.mit.edu	37	1	207105832	207105832	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:207105832C>A	ENST00000356495.4	-	8	2160	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	659						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCTGGCCACCCCCACAGCCA	0.647000													19	82					2.35188e-11	3.98207e-11	0.006122	1	0
ROS1	6098	broad.mit.edu	37	6	117680986	117680986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:117680986G>T	ENST00000368508.3	-	23	3832	c.3634C>A	c.(3634-3636)Cgc>Agc	p.R1212S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1207S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1212					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTAGAGCGATTGTGCAAG	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								29	39					1.88708e-17	3.52607e-17	0.001512	1	0
RELN	5649	broad.mit.edu	37	7	103130227	103130227	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:103130227G>T	ENST00000428762.1	-	60	9884	c.9725C>A	c.(9724-9726)aCg>aAg	p.T3242K	RELN_ENST00000424685.2_Missense_Mutation_p.T3242K|RELN_ENST00000343529.5_Missense_Mutation_p.T3242K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3242	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCACCGGTCGTGCAGTATCC	0.532000													10	36					7.48243e-07	1.15247e-06	0.006214	1	0
TBC1D32	221322	broad.mit.edu	37	6	121562642	121562642	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:121562642T>A	ENST00000275159.6	-	19	2213	c.2214A>T	c.(2212-2214)acA>acT	p.T738T	TBC1D32_ENST00000398212.2_Silent_p.T738T					TBC1 domain family, member 32																		CACCTGCTGCTGTTGATGCCA	0.333000													8	28					0	0	0.006214	0	0
LPAR4	2846	broad.mit.edu	37	X	78011270	78011270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:78011270C>A	ENST00000435339.2	+	2	1309	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	LPAR4_ENST00000373301.2_Missense_Mutation_p.L302M	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	302						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTTGCAACTCTGAACTGTTG	0.423000													22	11					8.10497e-08	1.27988e-07	0.001523	1	0
KRT85	3891	broad.mit.edu	37	12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:52756641G>T	ENST00000257901.3	-	6	1149	c.1074C>A	c.(1072-1074)tgC>tgA	p.C358*	KRT85_ENST00000544265.1_Nonsense_Mutation_p.C146*	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	358	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.C358*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597000													57	97					3.89483e-19	7.3805e-19	0.003610	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535519	90535519	+	RNA	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:90535519C>A	ENST00000602681.1	+	0	1423																											TCCACCTCCTCCGAAAGGCTT	0.587000													149	231					8.49357e-55	1.73572e-54	0.003610	1	0
ATRNL1	26033	broad.mit.edu	37	10	116930892	116930892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:116930892C>G	ENST00000355044.3	+	8	1316	c.1190C>G	c.(1189-1191)aCa>aGa	p.T397R	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Q368E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	397						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCATGGAGTACAAAAACTCCT	0.383000													42	41					0	0	0.002222	0	0
RP13-60M5.2	0	broad.mit.edu	37	9	91262250	91262250	+	RNA	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:91262250A>T	ENST00000418343.2	-	0	501																											TTGCATTATAAACCAAACTAA	0.413000													5	13					0	0	0.000602	0	0
CLIP1	6249	broad.mit.edu	37	12	122825885	122825885	+	Silent	SNP	T	T	A	rs150031777		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:122825885T>A	ENST00000358808.2	-	10	1987	c.1833A>T	c.(1831-1833)ctA>ctT	p.L611L	CLIP1_ENST00000302528.7_Silent_p.L611L|CLIP1_ENST00000545889.1_Silent_p.L312L|CLIP1_ENST00000540338.1_Silent_p.L622L|CLIP1_ENST00000537178.1_Silent_p.L576L|CLIP1_ENST00000361654.4_Silent_p.L576L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	622					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGACTTCCATAGAGCTATCA	0.488000													76	105					0	0	0.003610	0	0
C5orf38	153571	broad.mit.edu	37	5	2752749	2752749	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:2752749A>T	ENST00000515640.1	+	2	233	c.214A>T	c.(214-216)Aaa>Taa	p.K72*	C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000397835.4_Nonsense_Mutation_p.K72*|C5orf38_ENST00000505778.1_Nonsense_Mutation_p.K72*|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000334000.3_Nonsense_Mutation_p.K72*			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	72						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TGTGTTGTCAAAACACTGGGG	0.507000													42	169					0	0	0.002222	0	0
TMTC2	160335	broad.mit.edu	37	12	83251085	83251085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:83251085C>G	ENST00000549919.1	+	3	2167	c.362C>G	c.(361-363)cCc>cGc	p.P121R	TMTC2_ENST00000321196.3_Missense_Mutation_p.P127R|TMTC2_ENST00000548305.1_Missense_Mutation_p.P127R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	127						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTTCTCACCCCATTCACACG	0.517000													18	69					0	0	0.007413	0	0
IQCH	64799	broad.mit.edu	37	15	67757586	67757586	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:67757586T>G	ENST00000335894.4	+	17	2693	c.2627T>G	c.(2626-2628)gTt>gGt	p.V876G	IQCH_ENST00000358767.3_Missense_Mutation_p.V612G|IQCH_ENST00000546225.1_Missense_Mutation_p.V533G|IQCH_ENST00000360277.4_Missense_Mutation_p.V537G|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	876										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCCGCTTTGTTCCAAAGGAA	0.517000													45	48					0	0	0.002852	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725938	45725938	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr13:45725938A>G	ENST00000340473.6	+	4	417	c.276A>G	c.(274-276)acA>acG	p.T92T		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	92					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		GAGGACAGACATTAACAGTAT	0.373000													58	20					0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39682401	39682401	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:39682401A>T	ENST00000265708.4	-	4	307	c.204T>A	c.(202-204)caT>caA	p.H68Q	ADAM2_ENST00000521880.1_Missense_Mutation_p.H68Q|ADAM2_ENST00000347580.4_Missense_Mutation_p.H68Q|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.H68Q	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	68					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTAAAATTATGGGGTAAAA	0.269000													13	33					0	0	0.002450	0	0
CXCL12	6387	broad.mit.edu	37	10	44871472	44871472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:44871472C>G	ENST00000374426.2	-	4	312	c.275G>C	c.(274-276)aGa>aCa	p.R92T	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TTTTTCTTCTCTGCGCCCCCT	0.398000													14	88					0	0	0.001855	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409710	7409710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:7409710C>T	ENST00000361972.4	-	4	427	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SFMBT2_ENST00000397167.1_Missense_Mutation_p.E113K|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000397160.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000379711.2_Missense_Mutation_p.E113K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	113					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGCGGTCCTCCCCGTAACCG	0.597000													11	26					0	0	0.000673	0	0
DNAH7	56171	broad.mit.edu	37	2	196753557	196753557	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:196753557T>A	ENST00000312428.6	-	32	5295	c.5195A>T	c.(5194-5196)gAg>gTg	p.E1732V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCATTGGCTCAAAAATTAG	0.348000													10	33					0	0	0.006214	0	0
UBN2	254048	broad.mit.edu	37	7	138944065	138944065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:138944065A>G	ENST00000288561.8	+	5	854	c.605A>G	c.(604-606)gAg>gGg	p.E202G	UBN2_ENST00000473989.2_Missense_Mutation_p.E285G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	285										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						AAGCGGAAAGAGGAAGGGGAA	0.388000													10	63					0	0	0.001855	0	0
OR4L1	122742	broad.mit.edu	37	14	20528889	20528889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:20528889C>T	ENST00000315683.1	+	1	686	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438000													77	78					0	0	0.003610	0	0
GABRA1	2554	broad.mit.edu	37	5	161302615	161302615	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:161302615G>T	ENST00000428797.2	+	7	881	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	GABRA1_ENST00000393943.4_Missense_Mutation_p.D176Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D176Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D176Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	176					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTTCCCTATGGATGCCCATGC	0.383000													17	52					2.35188e-11	3.98207e-11	0.006122	1	0
SEPT3	55964	broad.mit.edu	37	22	42383671	42383671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:42383671C>T	ENST00000328414.8	+	3	386	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SEPT3_ENST00000291236.11_Silent_p.F89F|SEPT3_ENST00000396425.3_Silent_p.F153F|SEPT3_ENST00000406029.1_Silent_p.F89F|SEPT3_ENST00000396426.3_Silent_p.F153F			Q9UH03	SEPT3_HUMAN	septin 3	0					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ACGAGAAGTTCCTGAAGGAGG	0.507000													18	44					0	0	0.006122	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409747	7409747	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:7409747G>C	ENST00000361972.4	-	4	390	c.300C>G	c.(298-300)tgC>tgG	p.C100W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.C100W|SFMBT2_ENST00000379713.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000397160.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000379711.2_Missense_Mutation_p.C100W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	100					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGCTGCCCGCACGTGGTAA	0.567000													6	26					0	0	0.003080	0	0
CHL1	10752	broad.mit.edu	37	3	433478	433478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:433478T>A	ENST00000256509.2	+	23	3554	c.2912T>A	c.(2911-2913)aTa>aAa	p.I971K	CHL1_ENST00000397491.2_Missense_Mutation_p.I955K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	955	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATATCAGATAAGTAAGTAG	0.333000													9	24					0	0	0.006214	0	0
ST18	9705	broad.mit.edu	37	8	53045843	53045843	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:53045843G>A	ENST00000276480.7	-	20	3002	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	773						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522000													16	70					0	0	0.004990	0	0
MTBP	27085	broad.mit.edu	37	8	121475942	121475942	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:121475942A>G	ENST00000305949.1	+	10	1033	c.988A>G	c.(988-990)Aac>Gac	p.N330D		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	330					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATTGACAAACAGTACCAA	0.353000													25	132					0	0	0.005443	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709239	38709239	+	RNA	SNP	T	T	C	rs112834477		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:38709239T>C	ENST00000417039.1	-	0	696																											GCCTCATATCTGGGGGAATGT	0.567000													15	75					0	0	0.004007	0	0
KIF5A	3798	broad.mit.edu	37	12	57969038	57969038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:57969038C>G	ENST00000455537.2	+	16	2162	c.1888C>G	c.(1888-1890)Cag>Gag	p.Q630E	KIF5A_ENST00000286452.5_Missense_Mutation_p.Q541E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	630					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTCATCCTGCCAGCTCCTCAT	0.552000													3	20					0	0	0.004672	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874784	20874784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:20874784G>T	ENST00000381552.1	+	8	1190	c.822G>T	c.(820-822)tgG>tgT	p.W274C	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.W274C|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.W225C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.W274C|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.W156C			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	274					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGGAGCCTGGTGGCTTGGCT	0.423000													18	32					2.4624e-09	4.02392e-09	0.001216	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055471	40055471	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:40055471C>A	ENST00000336649.4	+	16	2382	c.2382C>A	c.(2380-2382)ttC>ttA	p.F794L	CACNA1I_ENST00000402142.3_Missense_Mutation_p.F788L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F788L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F753L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F753L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F753L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	788					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCAAGTTCAGCCTCCGCA	0.562000													5	7					1.23904e-05	1.82452e-05	0.000602	1	0
NLRP11	204801	broad.mit.edu	37	19	56300307	56300307	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:56300307T>A	ENST00000443188.1	-	11	3431	c.2721A>T	c.(2719-2721)cgA>cgT	p.R907R	NLRP11_ENST00000589824.2_Silent_p.R853R|NLRP11_ENST00000589093.1_Silent_p.R907R|NLRP11_ENST00000360133.3_Silent_p.R853R|NLRP11_ENST00000592953.1_Silent_p.R808R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	907							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGGCAAGAGATCGACAGCAGG	0.458000													14	36					0	0	0.004007	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854905	62854905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:62854905G>A	ENST00000584306.1	-	12	5331	c.4801C>T	c.(4801-4803)Ctc>Ttc	p.L1601F	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L1601F|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.L578F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L719F|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L639F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCTCAATGAGGCAGAGAAGT	0.378000													9	48					0	0	0.004482	0	0
RNF213	57674	broad.mit.edu	37	17	78321975	78321975	+	Silent	SNP	G	G	A	rs144070062	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:78321975G>A	ENST00000582970.1	+	29	9983	c.9840G>A	c.(9838-9840)gcG>gcA	p.A3280A	RNF213_ENST00000336301.6_Silent_p.A1353A|RNF213_ENST00000508628.2_Silent_p.A3329A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617000													31	42					0	0	0.002445	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936102	94936102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:94936102C>A	ENST00000337425.5	-	2	204	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A26S|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A44S|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	26					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCACTGGGGGCATTGGCCGGG	0.532000													15	91					4.7546e-09	7.70262e-09	0.004007	1	0
CASP4	837	broad.mit.edu	37	11	104819393	104819393	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:104819393C>A	ENST00000444739.2	-	6	1702	c.792G>T	c.(790-792)ggG>ggT	p.G264G	CASP4_ENST00000393150.3_Silent_p.G208G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	264					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCCACAGTTCCCCACGGTTTG	0.493000													18	44					1.67942e-08	2.67907e-08	0.006122	1	0
LRP1B	53353	broad.mit.edu	37	2	142004851	142004851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:142004851C>G	ENST00000389484.3	-	5	1507	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	179	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCACACAACTGCAAGTGTA	0.388000										TSP Lung(27;0.18)			27	66					0	0	0.007291	0	0
KIF26B	55083	broad.mit.edu	37	1	245530230	245530230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:245530230G>C	ENST00000407071.2	+	3	1000	c.560G>C	c.(559-561)tGc>tCc	p.C187S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACATTTGCGCCACTCAC	0.602000													8	34					0	0	0.004482	0	0
NUDT18	79873	broad.mit.edu	37	8	21965720	21965720	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:21965720A>T	ENST00000309188.6	-	4	418	c.300T>A	c.(298-300)tgT>tgA	p.C100*	NUDT18_ENST00000522405.1_Nonsense_Mutation_p.C23*|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	100	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TCTCGGGCTCACAGTGCAGCC	0.697000													3	22					0	0	0.004672	0	0
THSD7A	221981	broad.mit.edu	37	7	11676130	11676130	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:11676130G>T	ENST00000423059.3	-	2	900	c.649C>A	c.(649-651)Cgg>Agg	p.R217R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	TSP type-1 2.					integral to membrane		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617000										HNSCC(18;0.044)			5	30					1.23904e-05	1.82452e-05	0.000602	1	0
DPEP1	1800	broad.mit.edu	37	16	89696828	89696828	+	Missense_Mutation	SNP	G	G	A	rs150374214	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:89696828G>A	ENST00000393092.3	+	2	301	c.10G>A	c.(10-12)Gga>Aga	p.G4R	DPEP1_ENST00000261615.4_Missense_Mutation_p.G4R|DPEP1_ENST00000421184.1_Missense_Mutation_p.G4R	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	4					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATGTGGAGCGGATGGTGGCT	0.632000													16	91					0	0	0.004007	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567000													63	189					0	0	0.003610	0	0
PTPRF	5792	broad.mit.edu	37	1	44058190	44058190	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:44058190C>G	ENST00000359947.4	+	11	2071	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	PTPRF_ENST00000422171.2_Silent_p.L36L|PTPRF_ENST00000438120.1_Silent_p.L577L|PTPRF_ENST00000372413.3_Silent_p.L577L|PTPRF_ENST00000372414.3_Silent_p.L577L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	577	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGACACACTCTACCGCTTCC	0.602000													72	37					0	0	0.003610	0	0
CRY2	1408	broad.mit.edu	37	11	45892072	45892072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:45892072A>T	ENST00000443527.2	+	9	1623	c.1601A>T	c.(1600-1602)tAc>tTc	p.Y534F	CRY2_ENST00000417225.2_Missense_Mutation_p.Y452F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	513					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CTTTCGCGCTACCGGGGACTC	0.542000													8	29					0	0	0.003080	0	0
LPPR2	64748	broad.mit.edu	37	19	11470311	11470311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:11470311C>T	ENST00000251473.5	+	4	546	c.170C>T	c.(169-171)gCc>gTc	p.A57V	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A32V	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					AGTACCTACGCCAAGCCCTAC	0.602000													6	52					0	0	0.001168	0	0
ADAM2	2515	broad.mit.edu	37	8	39682336	39682336	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:39682336A>T	ENST00000265708.4	-	4	371		c.e4+1		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000523181.1_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAAAAACATACCTGAAAATC	0.318000													6	30					0	0	0.001984	0	0
CLEC1B	51266	broad.mit.edu	37	12	10147807	10147807	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:10147807G>T	ENST00000428126.2	-	6	647	c.378C>A	c.(376-378)gtC>gtA	p.V126V	CLEC1B_ENST00000298527.6_Silent_p.V159V|CLEC1B_ENST00000348658.4_Silent_p.V126V			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	159	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GAGATAATCCGACCCAACGAA	0.433000													73	406					1.75807e-36	3.53119e-36	0.003610	1	0
DQX1	165545	broad.mit.edu	37	2	74750470	74750470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:74750470T>A	ENST00000404568.3	-	5	1230	c.1011A>T	c.(1009-1011)caA>caT	p.Q337H	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.Q337H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	337	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CGATGACATGTTGGATGGAAG	0.542000													50	236					0	0	0.003610	0	0
OR5M1	390168	broad.mit.edu	37	11	56380575	56380575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:56380575C>A	ENST00000526538.1	-	1	403	c.404G>T	c.(403-405)aGg>aTg	p.R135M		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGGACATCCTGGAACTGTA	0.453000													34	50					9.65963e-10	1.5896e-09	0.003271	1	0
SNHG14	104472715	broad.mit.edu	37	15	25467514	25467514	+	RNA	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:25467514G>T	ENST00000453082.2	+	0	753				SNORD115-28_ENST00000363931.1_RNA	NR_003343.1																						TGAGAACCTTGTATTCTTCTG	0.522000													41	185					1.57019e-19	2.98146e-19	0.007835	1	0
TRIM71	131405	broad.mit.edu	37	3	32932010	32932010	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:32932010G>T	ENST00000383763.4	+	4	1377	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	438					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCGGATGCTGGCCCAGGTGC	0.617000													47	22					3.76604e-16	6.913e-16	0.002522	1	0
XIRP2	129446	broad.mit.edu	37	2	168107290	168107290	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:168107290G>T	ENST00000409195.1	+	9	9477	c.9388G>T	c.(9388-9390)Gcc>Tcc	p.A3130S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2908S|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3130S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2955					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATCTACTGCCCGACGAAC	0.438000													41	42					1.30998e-17	2.45262e-17	0.005524	1	0
KIAA1407	57577	broad.mit.edu	37	3	113724674	113724674	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:113724674T>G	ENST00000295878.3	-	10	1695	c.1549A>C	c.(1549-1551)Aat>Cat	p.N517H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCTGCTTATTGCCAGGTGCA	0.542000													46	217					0	0	0.002852	0	0
DZIP1L	199221	broad.mit.edu	37	3	137803000	137803000	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:137803000G>A	ENST00000327532.2	-	8	1520	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.A386A	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	386						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCTGCAGCTGGGCACGGAGGG	0.607000													25	132					0	0	0.003330	0	0
NFRKB	4798	broad.mit.edu	37	11	129758530	129758530	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:129758530C>A	ENST00000446488.3	-	3	399	c.296G>T	c.(295-297)cGc>cTc	p.R99L	NFRKB_ENST00000524746.1_Missense_Mutation_p.R99L|NFRKB_ENST00000304521.5_Missense_Mutation_p.R99L|NFRKB_ENST00000526940.1_Missense_Mutation_p.R99L|NFRKB_ENST00000524794.1_Missense_Mutation_p.R112L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	99					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTCCAAAGCGGAAGTTCTC	0.502000													19	43					2.27731e-05	3.3429e-05	0.001882	1	0
TTN	7273	broad.mit.edu	37	2	179617888	179617888	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179617888A>G	ENST00000589042.1	-	47	11498	c.11274T>C	c.(11272-11274)caT>caC	p.H3758H	TTN_ENST00000591111.1_Silent_p.H3441H|TTN_ENST00000359218.5_Silent_p.H3520H|TTN_ENST00000460472.2_Silent_p.H3395H|TTN_ENST00000360870.5_Silent_p.H3441H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.H3441H|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.H3587H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3441							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)			CAATCCTCTCATGCAAAATTG	0.284000													7	30					0	0	0.003080	0	0
NBPF14	25832	broad.mit.edu	37	1	148004599	148004599	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:148004599C>A	ENST00000369219.1	-	22	2731	c.2715G>T	c.(2713-2715)acG>acT	p.T905T				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	905	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GACTTGTCACCGTCAAAGTAA	0.463000													13	351					8.34094e-07	1.2701e-06	0.001216	1	0
TPH2	121278	broad.mit.edu	37	12	72425354	72425354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:72425354C>T	ENST00000333850.3	+	11	1493	c.1352C>T	c.(1351-1353)aCa>aTa	p.T451I		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	451					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATCCCTACACACAGAGTATT	0.408000													15	72					0	0	0.002450	0	0
RINT1	60561	broad.mit.edu	37	7	105177012	105177012	+	Splice_Site	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:105177012G>A	ENST00000257700.2	+	3	320	c.88_splice	c.e3-1	p.S30_splice		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	30					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGTTGTAGGTGACATAAAT	0.318000													43	52					0	0	0.002852	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367324	64367324	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:64367324C>T	ENST00000377574.1	+	7	1994	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	SLC22A12_ENST00000336464.7_Missense_Mutation_p.A382V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A308V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.A195V|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A308V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	416					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGTTGCTGGCAGGGCTCTGC	0.657000													8	33					0	0	0.003080	0	0
DCLK2	166614	broad.mit.edu	37	4	151142904	151142904	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:151142904G>T	ENST00000296550.7	+	7	1962	c.1208G>T	c.(1207-1209)gGc>gTc	p.G403V	DCLK2_ENST00000506325.1_Missense_Mutation_p.G402V|DCLK2_ENST00000302176.8_Missense_Mutation_p.G420V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	403	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGGTGATGGCAATTTTGCA	0.338000													7	29					0.000157383	0.000225727	0.003080	1	0
PRDM9	56979	broad.mit.edu	37	5	23522987	23522987	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:23522987C>A	ENST00000296682.3	+	8	1057	c.875C>A	c.(874-876)tCc>tAc	p.S292Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	292	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATGGATACTCCTGGCTGGTA	0.502000										HNSCC(3;0.000094)			17	141					0.000132079	0.000190015	0.001216	1	0
LRRCC1	85444	broad.mit.edu	37	8	86042283	86042283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:86042283C>A	ENST00000414626.2	+	10	2585	c.1696C>A	c.(1696-1698)Cag>Aag	p.Q566K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q586K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	586					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAAGAACAGGAACACAG	0.348000													13	49					4.36969e-10	7.24164e-10	0.001855	1	0
LIG1	3978	broad.mit.edu	37	19	48620966	48620966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:48620966G>A	ENST00000263274.7	-	26	2931	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	LIG1_ENST00000536218.1_Missense_Mutation_p.P770S|LIG1_ENST00000427526.2_Missense_Mutation_p.P807S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	838					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACAGCGCTGGGGTCCAGCCAG	0.662000								Nucleotide excision repair (NER)					12	26					0	0	0.000978	0	0
SYNE1	23345	broad.mit.edu	37	6	152456317	152456317	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:152456317G>T	ENST00000367255.5	-	142	26311	c.25710C>A	c.(25708-25710)gaC>gaA	p.D8570E	SYNE1_ENST00000354674.4_Missense_Mutation_p.D748E|SYNE1_ENST00000356820.4_Missense_Mutation_p.D3094E|SYNE1_ENST00000539504.1_Missense_Mutation_p.D725E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D8182E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D8570E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8570					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTCCTTCTGTCAATGTTCT	0.353000										HNSCC(10;0.0054)			16	21					6.31663e-08	9.99156e-08	0.003163	1	0
TRAV30	28652	broad.mit.edu	37	14	22636771	22636771	+	RNA	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:22636771A>T	ENST00000557168.1	+	0	224																											GGTGGAGAACAGAAGGGTCAT	0.448000													13	46					0	0	0.001368	0	0
TRDN	10345	broad.mit.edu	37	6	123869599	123869599	+	Splice_Site	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:123869599C>G	ENST00000334268.4	-	3	708	c.391_splice	c.e3+1	p.G131_splice	TRDN_ENST00000398178.3_Splice_Site_p.G131_splice|TRDN_ENST00000542443.1_Splice_Site_p.G131_splice|TRDN_ENST00000546248.1_Splice_Site_p.G131_splice			Q13061	TRDN_HUMAN	triadin	131					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCTTTGTACCTTTATCAGTA	0.368000													3	6					0	0	0.004672	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726375	31726375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:31726375C>A	ENST00000493662.2	+	14	1301	c.1245C>A	c.(1243-1245)aaC>aaA	p.N415K	MSH5_ENST00000375750.3_Missense_Mutation_p.N398K|MSH5_ENST00000431848.2_Missense_Mutation_p.N97K|MSH5_ENST00000375755.3_Missense_Mutation_p.N398K|MSH5_ENST00000375703.3_Missense_Mutation_p.N398K|MSH5_ENST00000534153.4_Missense_Mutation_p.N415K|MSH5_ENST00000375740.3_Missense_Mutation_p.N415K|MSH5_ENST00000375742.3_Missense_Mutation_p.N415K|MSH5_ENST00000395853.1_Missense_Mutation_p.N72K																							TCCTCCCCAACATAGATCCTG	0.532000													19	39					8.34094e-07	1.2701e-06	0.001216	1	0
TST	7263	broad.mit.edu	37	22	37407115	37407115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:37407115C>G	ENST00000403892.3	-	2	1581	c.847G>C	c.(847-849)Gcc>Ccc	p.A283P	TST_ENST00000249042.3_Missense_Mutation_p.A283P	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	283	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTGGGGGGGCCCGGCGAAAC	0.632000													11	101					0	0	0.000978	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803105	185803105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:185803105T>A	ENST00000302277.6	+	4	3576	c.2982T>A	c.(2980-2982)taT>taA	p.Y994*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	994						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGCTGCGTTATAATTCAGGAA	0.433000													44	47					0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179395060	179395060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179395060C>G	ENST00000589042.1	-	358	106506	c.106282G>C	c.(106282-106284)Gat>Cat	p.D35428H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33787H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26488H|TTN_ENST00000460472.2_Missense_Mutation_p.D26363H|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32860H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26555H|TTN-AS1_ENST00000589391.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33787							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)			ACAGTTGTATCCTGCAACCCA	0.428000													27	123					0	0	0.004656	0	0
FANCE	2178	broad.mit.edu	37	6	35425701	35425701	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:35425701G>A	ENST00000229769.2	+	4	1094	c.909G>A	c.(907-909)gaG>gaA	p.E303E		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	303	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGGGGTTAGAGGGATTGGAGG	0.562000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				42	53					0	0	0.002852	0	0
MRPS30	10884	broad.mit.edu	37	5	44815101	44815101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:44815101C>T	ENST00000507110.1	+	5	1155	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	373					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTTCTGCTACCAGCTAAATAC	0.388000													27	153					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9071210	9071210	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:9071210T>C	ENST00000397910.4	-	3	16439	c.16236A>G	c.(16234-16236)acA>acG	p.T5412T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5414	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCGGCTTCTGTGTGTGCAG	0.502000													93	449					0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12418560	12418560	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:12418560G>T	ENST00000358136.3	+	50	10174	c.10044G>T	c.(10042-10044)ccG>ccT	p.P3348P	VPS13D_ENST00000356315.4_Silent_p.P3323P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3347					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGCATGCCGGGCTGGTGTC	0.512000													39	17					3.54909e-21	6.79397e-21	0.002852	1	0
PKHD1	5314	broad.mit.edu	37	6	51890545	51890545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:51890545G>A	ENST00000371117.3	-	32	4338	c.4063C>T	c.(4063-4065)Cct>Tct	p.P1355S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P1355S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1355	IPT/TIG 8; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTGAAGAGGGATGGAGCAT	0.502000													15	51					0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85654614	85654614	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:85654614C>G	ENST00000322366.6	-	44	7549	c.7142G>C	c.(7141-7143)aGg>aCg	p.R2381T	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2381T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2381						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTTTTTCCTCATCCTGCA	0.527000													51	260					0	0	0.003610	0	0
SHOX2	6474	broad.mit.edu	37	3	157823782	157823782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:157823782G>T	ENST00000389589.4	-	1	167	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.S11Y|SHOX2_ENST00000425436.3_Missense_Mutation_p.S11Y	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	11					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGTCAAAAGACTTGGAGAC	0.617000													15	62					1.3612e-06	2.05937e-06	0.003163	1	0
TMEM132B	114795	broad.mit.edu	37	12	126004094	126004094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:126004094G>T	ENST00000299308.3	+	4	1209	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	401						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGATTGAGGACTCCATGAG	0.532000													15	98					2.31682e-05	3.3903e-05	0.003163	1	0
ITGB4	3691	broad.mit.edu	37	17	73738820	73738820	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:73738820C>T	ENST00000200181.3	+	25	3127	c.2940C>T	c.(2938-2940)aaC>aaT	p.N980N	ITGB4_ENST00000450894.3_Silent_p.N980N|ITGB4_ENST00000449880.2_Silent_p.N980N|ITGB4_ENST00000339591.3_Silent_p.N980N|ITGB4_ENST00000579662.1_Silent_p.N980N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	980	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGTAAACATCACCATCA	0.637000													8	69					0	0	0.004482	0	0
GPR20	2843	broad.mit.edu	37	8	142367609	142367609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:142367609G>A	ENST00000377741.3	-	2	505	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	139						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGAGGAAGAGGATGGAGCAG	0.687000													13	58					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330551	25330551	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:25330551T>C	ENST00000546682.1	+	0	453				SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ATGACTTCCTTATATACATTC	0.453000													61	82					0	0	0.003610	0	0
ABHD17C	58489	broad.mit.edu	37	15	80988172	80988172	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:80988172G>T	ENST00000258884.4	+	1	529	c.402G>T	c.(400-402)acG>acT	p.T134T	ABHD17C_ENST00000558464.1_Silent_p.T134T|ABHD17C_ENST00000560609.1_Intron	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		GCCGCTACACGCTGCTCTTCT	0.652000													5	9					0.000602214	0.000850719	0.000602	1	0
GART	2618	broad.mit.edu	37	21	34878379	34878379	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:34878379G>T	ENST00000381831.3	-	19	2748	c.2485C>A	c.(2485-2487)Cgg>Agg	p.R829R	GART_ENST00000381839.3_Silent_p.R829R|GART_ENST00000543717.1_Silent_p.R381R|GART_ENST00000381815.4_Silent_p.R829R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	829	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTTGGTTCCCGAGTACTGTCT	0.423000													45	49					1.41504e-22	2.71988e-22	0.002852	1	0
NRXN1	9378	broad.mit.edu	37	2	50724827	50724827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:50724827C>A	ENST00000404971.1	-	15	3982	c.2643G>T	c.(2641-2643)agG>agT	p.R881S	NRXN1_ENST00000401669.2_Missense_Mutation_p.R841S|NRXN1_ENST00000405472.3_Missense_Mutation_p.R833S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R841S|NRXN1_ENST00000402717.3_Missense_Mutation_p.R833S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R841S|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	841	Laminin G-like 4.				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			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)			GGAACTCCAGCCTAGTATGAT	0.388000													12	46					7.93312e-07	1.21391e-06	0.002450	1	0
BRCA1	672	broad.mit.edu	37	17	41226510	41226510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:41226510C>T	ENST00000309486.4	-	13	4652	c.3625G>A	c.(3625-3627)Gat>Aat	p.D1209N	BRCA1_ENST00000468300.1_Missense_Mutation_p.D401N|BRCA1_ENST00000357654.3_Missense_Mutation_p.D1505N|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.D322N|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.D401N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.D1526N|BRCA1_ENST00000591534.1_5'UTR|BRCA1_ENST00000493795.1_Missense_Mutation_p.D1458N|BRCA1_ENST00000352993.3_Missense_Mutation_p.D363N	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1505					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACCTATCATCTAATGATGGG	0.443000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			11	38					0	0	0.000673	0	0
SEMA3C	10512	broad.mit.edu	37	7	80394488	80394488	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:80394488C>G	ENST00000265361.3	-	13	1987	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	SEMA3C_ENST00000544525.1_Missense_Mutation_p.E494Q|SEMA3C_ENST00000419255.2_Missense_Mutation_p.E476Q	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	476	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTTCCAGCTCCTCCAGAATG	0.388000													23	49					0	0	0.004656	0	0
UNC5C	8633	broad.mit.edu	37	4	96469982	96469982	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:96469982C>T	ENST00000453304.1	-	1	375	c.27G>A	c.(25-27)gcG>gcA	p.A9A	UNC5C_ENST00000506749.1_Silent_p.A9A|UNC5C_ENST00000504962.1_Silent_p.A9A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	9					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGCGGGCCGCTGTCGCCC	0.667000													60	49					0	0	0.003610	0	0
JAG1	182	broad.mit.edu	37	20	10653648	10653648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:10653648C>A	ENST00000254958.5	-	2	603	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	30					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCGAGGCCCCACACACCTGC	0.647000									Alagille Syndrome				9	61					3.86212e-05	5.60785e-05	0.000673	1	0
DGKI	9162	broad.mit.edu	37	7	137148340	137148340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:137148340T>C	ENST00000424189.2	-	28	2922	c.2693A>G	c.(2692-2694)aAt>aGt	p.N898S	DGKI_ENST00000288490.5_Missense_Mutation_p.N885S|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.N867S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	885					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGGGCAGGATTCCACCAGTC	0.502000													24	30					0	0	0.002780	0	0
USH2A	7399	broad.mit.edu	37	1	216062110	216062110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:216062110G>C	ENST00000366943.2	-	41	8267	c.7881C>G	c.(7879-7881)atC>atG	p.I2627M	USH2A_ENST00000307340.3_Missense_Mutation_p.I2627M|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2627	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I2627M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTTGGGATCCCTTCCG	0.498000										HNSCC(13;0.011)			17	52					0	0	0.004007	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850121	83850121	+	Splice_Site	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:83850121A>G	ENST00000349129.2	+	23	5674	c.5415_splice	c.e23+1	p.K1805_splice	DOPEY1_ENST00000369739.3_Splice_Site_p.K1796_splice|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Splice_Site_p.K1786_splice	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1805					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGCTACAAAGGTTAGACAA	0.378000													15	41					0	0	0.004007	0	0
SPEF2	79925	broad.mit.edu	37	5	35641597	35641597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:35641597C>T	ENST00000440995.2	+	3	226	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q76*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	76	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGGTGTGCAGTTTGATCA	0.388000													10	94					0	0	0.006214	0	0
LZTS2	84445	broad.mit.edu	37	10	102763890	102763890	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:102763890C>A	ENST00000370220.1	+	2	4098	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	LZTS2_ENST00000370223.3_Missense_Mutation_p.D345E			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	345					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCGGGACAGTCTGGACG	0.632000													11	40					6.40141e-05	9.28056e-05	0.000978	1	0
PSMB11	122706	broad.mit.edu	37	14	23512042	23512042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:23512042C>T	ENST00000408907.2	+	1	667	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGCCTACGCCCTGGCTCGC	0.627000													28	36					0	0	0.004656	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416154	103416154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:103416154C>A	ENST00000361246.2	-	26	3685	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1133	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GATTTTCCTTCAGGCAGATCA	0.527000													52	90					8.78508e-14	1.55187e-13	0.003610	1	0
PVRL3	25945	broad.mit.edu	37	3	110837676	110837676	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:110837676A>G	ENST00000485303.1	+	3	951	c.676A>G	c.(676-678)Acg>Gcg	p.T226A	PVRL3_ENST00000319792.3_Missense_Mutation_p.T226A|PVRL3_ENST00000493615.1_Missense_Mutation_p.T203A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	226	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGAAACGGCAACGATTATCAG	0.433000													10	58					0	0	0.000978	0	0
CRIM1	51232	broad.mit.edu	37	2	36583743	36583743	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:36583743A>G	ENST00000280527.2	+	1	675	c.308A>G	c.(307-309)gAg>gGg	p.E103G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	103	IGFBP N-terminal.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCCTCACCGAGTACGAAGCG	0.687000													11	53					0	0	0.000978	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13789488	13789488	+	Splice_Site	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:13789488G>A	ENST00000378106.5	+	8	837	c.717_splice	c.e8-1	p.D240_splice	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Splice_Site_p.D212_splice	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	240					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										TTTTAAATAGGACACTGATGA	0.338000													18	25					0	0	0.004990	0	0
MYOM2	9172	broad.mit.edu	37	8	2044190	2044190	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:2044190G>T	ENST00000262113.4	+	18	2370	c.2229G>T	c.(2227-2229)ctG>ctT	p.L743L	MYOM2_ENST00000523438.1_Silent_p.L168L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	743	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGCCCATCCTGGGCTACTACC	0.532000													13	60					1.5842e-08	2.54449e-08	0.001855	1	0
MSH4	4438	broad.mit.edu	37	1	76365339	76365339	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:76365339C>G	ENST00000263187.3	+	19	2671	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	856					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTCCACCATCAATTGTCTTG	0.303000								Mismatch excision repair (MMR)					16	41					0	0	0.001216	0	0
VAV2	7410	broad.mit.edu	37	9	136635537	136635537	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:136635537C>A	ENST00000371851.1	-	25	2605	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	VAV2_ENST00000371850.3_Silent_p.R770R|VAV2_ENST00000406606.3_Silent_p.R760R			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	770	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCGAACGTTCCCGGGACTTGT	0.647000													12	74					1.08611e-07	1.70078e-07	0.000978	1	0
KCNA1	3736	broad.mit.edu	37	12	5021762	5021762	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:5021762C>T	ENST00000382545.3	+	2	2325	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	406					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGTACCTGTCATTGTGTCCA	0.517000													170	304					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152275869	152275869	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:152275869A>T	ENST00000368799.1	-	3	11528	c.11493T>A	c.(11491-11493)caT>caA	p.H3831Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3831	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCTTCATGGTGACGCG	0.587000									Ichthyosis				100	340					0	0	0.003610	0	0
SASH3	54440	broad.mit.edu	37	X	128926745	128926745	+	Missense_Mutation	SNP	G	G	C	rs35096611	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:128926745G>C	ENST00000356892.3	+	6	848	c.734G>C	c.(733-735)cGa>cCa	p.R245P		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	245										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCCAGCCGCCGACAGAGCAAG	0.597000													51	9					0	0	0.003610	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167082	42167082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:42167082G>A	ENST00000320955.6	-	23	4687	c.4460C>T	c.(4459-4461)gCc>gTc	p.A1487V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1487					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGGGGAGGCGGCCATGCC	0.637000													8	44					0	0	0.004482	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709067	38709067	+	RNA	SNP	A	A	G	rs113173138		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:38709067A>G	ENST00000417039.1	-	0	696																											ATGATTATCCAAAATGTTTCA	0.537000													10	38					0	0	0.000673	0	0
ART1	417	broad.mit.edu	37	11	3681167	3681167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:3681167C>T	ENST00000250693.1	+	3	519	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGAGGCGGGCCGCTCCCGGGC	0.667000													13	33					0	0	0.002450	0	0
CD163	9332	broad.mit.edu	37	12	7636247	7636247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:7636247G>C	ENST00000359156.4	-	12	3006	c.2804C>G	c.(2803-2805)cCc>cGc	p.P935R	CD163_ENST00000432237.2_Missense_Mutation_p.P935R|CD163_ENST00000396620.3_Missense_Mutation_p.P968R|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.P923R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	935	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGAAGTGGGTCCTTCCTG	0.468000													23	55					0	0	0.001882	0	0
NRG2	9542	broad.mit.edu	37	5	139283936	139283936	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:139283936G>C	ENST00000340391.3	-	1	46	c.47C>G	c.(46-48)cCa>cGa	p.P16R	NRG2_ENST00000358522.3_Intron|NRG2_ENST00000545385.1_Intron|NRG2_ENST00000394770.1_Intron|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000361474.1_Intron			O14511	NRG2_HUMAN	neuregulin 2	0					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCCCTCTGGGTGCTTCTT	0.716000													7	20					0	0	0.004482	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866875	131866875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:131866875C>T	ENST00000359827.3	-	17	4195	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1078E			Q9HCM2	PLXA4_HUMAN	plexin A4	1078	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTTCCCTCCATGCTTGGC	0.557000													24	37					0	0	0.007291	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1																						CCCGGCACCTTCTCAGGAGCT	0.632000													2	11					0	0	0.004672	0	0
ECM1	1893	broad.mit.edu	37	1	150480696	150480696	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:150480696C>G	ENST00000369047.4	+	1	136	c.11C>G	c.(10-12)aCa>aGa	p.T4R	ECM1_ENST00000346569.6_Missense_Mutation_p.T4R|ECM1_ENST00000369049.4_Missense_Mutation_p.T4R|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	4					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGGACCACAGCCAGAGCA	0.597000													28	55					0	0	0.006320	0	0
MAPK11	5600	broad.mit.edu	37	22	50705104	50705104	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:50705104A>C	ENST00000449719.2	-	6	881	c.545T>G	c.(544-546)gTg>gGg	p.V182G	MAPK11_ENST00000330651.6_Intron			Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	0	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAGACCCACAGTCACATC	0.642000													4	18					0	0	0.000248	0	0
TUT1	64852	broad.mit.edu	37	11	62343587	62343587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:62343587C>T	ENST00000476907.1	-	9	2295	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	TUT1_ENST00000308436.7_Missense_Mutation_p.R573H|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	535	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGCCAAGGCGCAGACCCTC	0.622000													11	39					0	0	0.000673	0	0
M1AP	130951	broad.mit.edu	37	2	74867187	74867187	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:74867187C>T	ENST00000290536.5	-	2	332	c.216G>A	c.(214-216)caG>caA	p.Q72Q	M1AP_ENST00000536235.1_Silent_p.Q72Q|M1AP_ENST00000409585.1_Silent_p.Q72Q|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TGCACTCATGCTGATCTTGTA	0.443000													27	26					0	0	0.005443	0	0
CTNND2	1501	broad.mit.edu	37	5	11236908	11236908	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:11236908C>A	ENST00000304623.8	-	10	1845	c.1656G>T	c.(1654-1656)ctG>ctT	p.L552L	CTNND2_ENST00000511377.1_Silent_p.L461L|CTNND2_ENST00000458100.2_Silent_p.L119L|CTNND2_ENST00000359640.2_Silent_p.L552L|CTNND2_ENST00000503622.1_Silent_p.L215L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	552					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACTTCCGGCAGTTCCGGGT	0.473000													42	123					2.66277e-13	4.66855e-13	0.006999	1	0
OR5M11	219487	broad.mit.edu	37	11	56309852	56309852	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:56309852T>C	ENST00000528616.2	-	1	905	c.882A>G	c.(880-882)aaA>aaG	p.K294K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTTCACATCTTTATTCCTCA	0.373000													11	40					0	0	0.001368	0	0
GPR132	29933	broad.mit.edu	37	14	105521755	105521755	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:105521755C>A	ENST00000329797.3	-	3	914	c.3G>T	c.(1-3)atG>atT	p.M1I	GPR132_ENST00000392585.2_Intron|GPR132_ENST00000546679.1_Intron|GPR132_ENST00000539291.2_Start_Codon_SNP_p.M1I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	1					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		gcattgggcacattcacattc	0.443000													51	96					9.90819e-18	1.8625e-17	0.003610	1	0
PNPLA7	375775	broad.mit.edu	37	9	140357226	140357226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:140357226C>A	ENST00000406427.1	-	30	3739	c.3403G>T	c.(3403-3405)Gat>Tat	p.D1135Y	PNPLA7_ENST00000371457.1_Missense_Mutation_p.D716Y|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.D1110Y	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1110					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCGTCTCATCTCGGCTGCCC	0.617000													29	60					2.68265e-12	4.61878e-12	0.002836	1	0
MTA1	9112	broad.mit.edu	37	14	105926711	105926711	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:105926711G>T	ENST00000331320.7	+	9	884	c.670G>T	c.(670-672)Gca>Tca	p.A224S	MTA1_ENST00000406191.1_Missense_Mutation_p.A224S|MTA1_ENST00000405646.1_Missense_Mutation_p.A207S	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	224	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGGCACCTTCGCACGGGCCCT	0.687000													9	37					7.48243e-07	1.15247e-06	0.006214	1	0
UNC79	57578	broad.mit.edu	37	14	94088986	94088986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:94088986C>T	ENST00000553484.1	+	31	5627	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	UNC79_ENST00000555664.1_Missense_Mutation_p.P1803S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1803S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1626S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1803						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGTGAGAAGCCTGATACCAG	0.498000													9	52					0	0	0.006214	0	0
CELSR1	9620	broad.mit.edu	37	22	46760459	46760459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:46760459C>T	ENST00000262738.3	-	33	8728	c.8729G>A	c.(8728-8730)aGc>aAc	p.S2910N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2910					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGCCCCCGCTCTCCTGGTC	0.692000													50	15					0	0	0.003610	0	0
RAB7A	7879	broad.mit.edu	37	3	128514247	128514247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:128514247A>T	ENST00000265062.3	+	2	283	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	RAB7A_ENST00000485280.1_Missense_Mutation_p.I13F|RAB7A_ENST00000482525.1_Missense_Mutation_p.I13F	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	13					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		GAAGGTTATCATCCTGGGAGA	0.458000											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	48					0	0	0.003610	0	0
PVRL3	25945	broad.mit.edu	37	3	110837725	110837725	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:110837725G>T	ENST00000485303.1	+	3	1000	c.725G>T	c.(724-726)aGg>aTg	p.R242M	PVRL3_ENST00000319792.3_Missense_Mutation_p.R242M|PVRL3_ENST00000493615.1_Missense_Mutation_p.R219M	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	242	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GCTAGAGGAAGGCGAATTACT	0.373000													14	59					7.93312e-07	1.21391e-06	0.002450	1	0
OR5T3	390154	broad.mit.edu	37	11	56020200	56020200	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:56020200C>T	ENST00000303059.3	+	1	525	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCCACTCATCACTGCTTCCT	0.433000													99	120					0	0	0.003610	0	0
ZNF587	84914	broad.mit.edu	37	19	58370975	58370975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:58370975C>T	ENST00000339656.5	+	3	1377	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q398*|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q356*|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTTCACCATCAGCGAGGTCA	0.473000													66	97					0	0	0.003610	0	0
UNC5C	8633	broad.mit.edu	37	4	96222797	96222797	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:96222797C>A	ENST00000453304.1	-	3	798	c.450G>T	c.(448-450)gcG>gcT	p.A150A	UNC5C_ENST00000506749.1_Silent_p.A150A|UNC5C_ENST00000504962.1_Silent_p.A150A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	150	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGTGGTACCCGCGGAGCTCC	0.502000													26	24					0.000586117	0.00083048	0.003954	1	0
DNAJC12	56521	broad.mit.edu	37	10	69571401	69571401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:69571401G>A	ENST00000225171.2	-	3	330	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DNAJC12_ENST00000339758.7_Nonsense_Mutation_p.Q60*|DNAJC12_ENST00000483798.2_Nonsense_Mutation_p.Q90*	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	60	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTTGCCTTCTGCAGTTTCTGA	0.458000													23	69					0	0	0.002780	0	0
CEP112	201134	broad.mit.edu	37	17	63822338	63822338	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:63822338T>C	ENST00000317442.8	-	1	323	c.80A>G	c.(79-81)aAt>aGt	p.N27S	CEP112_ENST00000580482.1_Intron|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000392769.2_Intron	NM_001037325.2	NP_001032402.1	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	758						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GACATTACCATTCTCTTCTCT	0.458000													75	220					0	0	0.003610	0	0
ZNF222	7673	broad.mit.edu	37	19	44536610	44536610	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:44536610A>G	ENST00000187879.8	+	4	945	c.783A>G	c.(781-783)atA>atG	p.I261M	ZNF222_ENST00000391960.3_Missense_Mutation_p.I301M|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AATGTGAAATATGTGGTAAGA	0.393000													39	99					0	0	0.006230	0	0
AOC4P	90586	broad.mit.edu	37	17	41019918	41019918	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:41019918T>C	ENST00000585538.1	+	0	757					NR_002773.1																						CGGAACCTGGTGACAATGACC	0.587000													8	44					0	0	0.004482	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508711	106508711	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:106508711C>G	ENST00000359195.3	+	2	1015	c.705C>G	c.(703-705)gtC>gtG	p.V235V	PIK3CG_ENST00000440650.2_Silent_p.V235V|PIK3CG_ENST00000496166.1_Silent_p.V235V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	235					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATTAAGGTCTCACCCGACG	0.547000													35	84					0	0	0.004289	0	0
ELF1	1997	broad.mit.edu	37	13	41515109	41515109	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr13:41515109T>C	ENST00000239882.3	-	8	1518	c.1204A>G	c.(1204-1206)Aga>Gga	p.R402G	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.R378G	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	402					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTACTGGTTCTAGCTGCTTCT	0.468000													60	24					0	0	0.003610	0	0
SNHG23	100507242	broad.mit.edu	37	14	101421722	101421722	+	RNA	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:101421722C>T	ENST00000556637.1	+	0	399				SNORD114-5_ENST00000362928.1_RNA																							TGATGATGACCACTGGTGGCC	0.398000													13	53					0	0	0.002450	0	0
ZNF536	9745	broad.mit.edu	37	19	30935396	30935396	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:30935396T>A	ENST00000355537.3	+	2	1074	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTTCGCGGCTTCGCAGGAGG	0.642000													84	116					0	0	0.003610	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357267	36357267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:36357267C>T	ENST00000360202.5	+	15	2198	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P647L|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P632L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	667	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACCCCACCCTCGAGCTTTC	0.612000													77	155					0	0	0.003610	0	0
A2M	2	broad.mit.edu	37	12	9230012	9230012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:9230012C>A	ENST00000318602.7	-	27	3588	c.3281G>T	c.(3280-3282)gGa>gTa	p.G1094V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATCTTCTACTCCTCCCTGTGA	0.453000													7	24					7.48243e-07	1.15247e-06	0.006214	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889341	105889341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:105889341G>C	ENST00000393359.2	-	10	2369	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S648C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	648					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTATAAATCAGATTTCTGGAG	0.557000													19	46					0	0	0.007413	0	0
SNAI3	333929	broad.mit.edu	37	16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:88747799C>T	ENST00000332281.5	-	2	486	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	134					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667000													59	75					0	0	0.003610	0	0
OR5I1	10798	broad.mit.edu	37	11	55703773	55703773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:55703773G>A	ENST00000301532.3	-	1	103	c.104C>T	c.(103-105)aCa>aTa	p.T35I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGCATACAATGTCAGAAACAT	0.393000													8	28					0	0	0.003080	0	0
MSN	4478	broad.mit.edu	37	X	64959704	64959704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:64959704G>T	ENST00000360270.5	+	13	1855	c.1683G>T	c.(1681-1683)caG>caT	p.Q561H	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	561					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCCTGCGCCAGATCCGGCAGG	0.547000			T	ALK	ALCL								24	27					1.1804e-14	2.1211e-14	0.003954	1	0
RNF20	56254	broad.mit.edu	37	9	104314536	104314536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:104314536C>G	ENST00000389120.3	+	12	1612	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	508					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAGTCTGACCTGAACAAGGT	0.443000													26	116					0	0	0.004656	0	0
NRG3	10718	broad.mit.edu	37	10	84498357	84498357	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:84498357C>A	ENST00000372142.2	+	4	589	c.315C>A	c.(313-315)gtC>gtA	p.V105V	NRG3_ENST00000404547.1_Silent_p.V326V|NRG3_ENST00000404576.2_Silent_p.V130V|NRG3_ENST00000556918.1_Silent_p.V156V|NRG3_ENST00000372141.2_Silent_p.V326V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	326	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAAGGAGTCCGTTGTGATC	0.388000													11	36					0.00010058	0.000144922	0.001368	1	0
HSPG2	3339	broad.mit.edu	37	1	22179293	22179293	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:22179293C>T	ENST00000374695.3	-	52	6703	c.6624G>A	c.(6622-6624)gtG>gtA	p.V2208V	HSPG2_ENST00000430507.1_Silent_p.V154V	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2208	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGCCGGGGTCACCTGGTGCA	0.657000													19	44					0	0	0.006122	0	0
TTC8	123016	broad.mit.edu	37	14	89300041	89300041	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:89300041C>G	ENST00000380656.2	+	2	165	c.119C>G	c.(118-120)cCa>cGa	p.P40R	TTC8_ENST00000345383.5_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000354441.6_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	40			Missing (in RP51).		cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCCAGGAACCAGATCCTGAA	0.348000													10	49					0	0	0.001368	0	0
OVCH1	341350	broad.mit.edu	37	12	29630038	29630038	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:29630038T>C	ENST00000318184.5	-	12	1373	c.1374A>G	c.(1372-1374)atA>atG	p.I458M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	458	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCCTACCTTTATAATGTGCT	0.393000													8	20					0	0	0.003080	0	0
OR10A7	121364	broad.mit.edu	37	12	55614811	55614811	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:55614811G>C	ENST00000326258.1	+	1	3	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTAAGATATGATCTGTGAAA	0.313000													24	108					0	0	0.003954	0	0
OR5I1	10798	broad.mit.edu	37	11	55703379	55703379	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:55703379A>G	ENST00000301532.3	-	1	497	c.498T>C	c.(496-498)ttT>ttC	p.F166F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTCAGAATAAAGGCAAAGG	0.413000													28	28					0	0	0.005443	0	0
MAML1	9794	broad.mit.edu	37	5	179192840	179192840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:179192840G>T	ENST00000292599.3	+	2	1092	c.829G>T	c.(829-831)Gag>Tag	p.E277*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	277					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTTCGAGGAGAAGAAGGA	0.512000													26	69					7.68411e-24	1.49848e-23	0.001512	1	0
NOD2	64127	broad.mit.edu	37	16	50733572	50733572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:50733572C>A	ENST00000300589.2	+	2	352	c.247C>A	c.(247-249)Cac>Aac	p.H83N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	83	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCTCTCTCCCACTTGGCCAG	0.637000													53	49					9.55421e-19	1.80319e-18	0.003610	1	0
UTS2B	257313	broad.mit.edu	37	3	190995894	190995894	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:190995894T>C	ENST00000340524.5	-	6	955	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	UTS2B_ENST00000427544.2_Missense_Mutation_p.K57E	NM_198152.3	NP_937795.2			urotensin 2B																		TCAAAATTTTTATTCAGTAGA	0.284000													17	15					0	0	0.001882	0	0
TMEM237	65062	broad.mit.edu	37	2	202494493	202494493	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:202494493C>A	ENST00000409444.2	-	8	929	c.612G>T	c.(610-612)tgG>tgT	p.W204C	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Missense_Mutation_p.W212C	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	236						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CTCTGGTGGTCCAGGAAGGCT	0.428000													26	78					2.44723e-14	4.37239e-14	0.004656	1	0
GPR98	84059	broad.mit.edu	37	5	90015959	90015959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:90015959G>C	ENST00000405460.2	+	44	9638	c.9542G>C	c.(9541-9543)gGg>gCg	p.G3181A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3181					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTAGACTAGGGGTGCATGTT	0.413000													19	51					0	0	0.006122	0	0
SCN1A	6323	broad.mit.edu	37	2	166892851	166892851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:166892851C>G	ENST00000423058.2	-	16	3153	c.3136G>C	c.(3136-3138)Gat>Cat	p.D1046H	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1035H|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1018H|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1046H|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1046						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAATTTCATCTAAAATCTTT	0.318000													26	25					0	0	0.003330	0	0
FBXL7	23194	broad.mit.edu	37	5	15937116	15937116	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:15937116C>A	ENST00000504595.1	+	4	1778	c.1297C>A	c.(1297-1299)Ctc>Atc	p.L433I	FBXL7_ENST00000329673.7_Missense_Mutation_p.L421I|FBXL7_ENST00000510662.1_Missense_Mutation_p.L386I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	433					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCAAGCGGCTCAGCCTCAA	0.587000													5	81					3.59834e-05	5.24921e-05	0.001168	1	0
EYA4	2070	broad.mit.edu	37	6	133836544	133836544	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:133836544A>T	ENST00000367895.5	+	17	2051	c.1587A>T	c.(1585-1587)gcA>gcT	p.A529A	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Silent_p.A535A|EYA4_ENST00000431403.2_Silent_p.A529A|EYA4_ENST00000355167.3_Silent_p.A529A|EYA4_ENST00000452339.2_Silent_p.A475A|EYA4_ENST00000430974.2_Silent_p.A481A|EYA4_ENST00000355286.6_Silent_p.A506A|EYA4_ENST00000525849.1_Silent_p.A506A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	529					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAACAAATGCACTTAAGTCTT	0.393000													35	121					0	0	0.003271	0	0
OR13C2	392376	broad.mit.edu	37	9	107367190	107367190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:107367190G>C	ENST00000542196.1	-	1	761	c.719C>G	c.(718-720)aCc>aGc	p.T240S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGAACAGGTAGAGGAAGC	0.403000													21	90					0	0	0.001523	0	0
GRM3	2913	broad.mit.edu	37	7	86394734	86394734	+	Missense_Mutation	SNP	G	G	C	rs150518450		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:86394734G>C	ENST00000361669.2	+	2	1372	c.273G>C	c.(271-273)ttG>ttC	p.L91F	GRM3_ENST00000394720.2_Missense_Mutation_p.L89F|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L91F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	91					synaptic transmission	integral to plasma membrane		p.L91F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGTGAAGTTGGGTGTTCACA	0.433000													31	126					0	0	0.002096	0	0
CHD6	84181	broad.mit.edu	37	20	40101970	40101970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:40101970C>T	ENST00000373233.3	-	17	2833	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	886	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCTGCAAGTCATTTTGTGGG	0.498000													6	52					0	0	0.001168	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335111	64335111	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:64335111C>A	ENST00000301891.4	+	7	1473	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	SLC22A11_ENST00000377581.3_Missense_Mutation_p.L367M|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	367					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GGTCTTCGACCTGCAGAGCCT	0.632000													80	80					5.95195e-44	1.21105e-43	0.003610	1	0
DPP4	1803	broad.mit.edu	37	2	162876781	162876781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:162876781G>T	ENST00000360534.3	-	14	1762	c.1202C>A	c.(1201-1203)aCc>aAc	p.T401N		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	401					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GACTTCCCAGGTGCCTTTTGT	0.338000													14	48					4.93089e-13	8.62906e-13	0.002450	1	0
TBX15	6913	broad.mit.edu	37	1	119474274	119474274	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:119474274A>C	ENST00000369429.3	-	2	396	c.387T>G	c.(385-387)atT>atG	p.I129M	TBX15_ENST00000207157.3_Missense_Mutation_p.I23M			Q96SF7	TBX15_HUMAN	T-box 15	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTTCAGTTCCAATATCATGGA	0.493000													9	40					0	0	0.006214	0	0
BCORL1	63035	broad.mit.edu	37	X	129149304	129149304	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:129149304G>T	ENST00000540052.1	+	3	2600	c.2556G>T	c.(2554-2556)ctG>ctT	p.L852L	BCORL1_ENST00000303743.5_Silent_p.L852L|BCORL1_ENST00000218147.7_Silent_p.L852L|BCORL1_ENST00000359304.2_Silent_p.L852L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	852					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGGGCAGCTGACCCCCAGTC	0.617000													83	27					2.13431e-38	4.31461e-38	0.003610	1	0
VSX1	30813	broad.mit.edu	37	20	25057164	25057164	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:25057164C>A	ENST00000376709.4	-	5	1094	c.831G>T	c.(829-831)ggG>ggT	p.G277G	VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	277	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCCTTATCATCCCCATGGATT	0.353000													25	109					3.01185e-09	4.90471e-09	0.003954	1	0
CCDC180	100499483	broad.mit.edu	37	9	100070394	100070394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:100070394C>T	ENST00000375202.2	+	16	1533	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	CCDC180_ENST00000411667.2_Nonsense_Mutation_p.Q61*|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q61*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Nonsense_Mutation_p.Q200*|CCDC180_ENST00000395220.1_Nonsense_Mutation_p.Q200*					coiled-coil domain containing 180																		GAAAGCCTACCAGCAGATCTT	0.617000													30	47					0	0	0.006320	0	0
LRIT1	26103	broad.mit.edu	37	10	85992290	85992290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:85992290C>T	ENST00000372105.3	-	4	1286	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	422						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGTCCTGCCCGCCCATCAGA	0.617000													20	64					0	0	0.001882	0	0
DOPEY2	9980	broad.mit.edu	37	21	37652588	37652588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:37652588A>G	ENST00000399151.3	+	31	6060	c.5975A>G	c.(5974-5976)aAg>aGg	p.K1992R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1992					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGTTGGAAGTCCATTATT	0.289000													8	27					0	0	0.004482	0	0
CPT1A	1374	broad.mit.edu	37	11	68540781	68540781	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:68540781C>T	ENST00000265641.5	-	14	1846	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	CPT1A_ENST00000540367.1_Silent_p.T564T|CPT1A_ENST00000539743.1_Silent_p.T564T|CPT1A_ENST00000376618.2_Silent_p.T564T|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	564	Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCTGGGCTCGTGCGACATT	0.527000													11	47					0	0	0.000978	0	0
SSH1	54434	broad.mit.edu	37	12	109182593	109182593	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:109182593T>C	ENST00000326495.5	-	15	2414	c.2321A>G	c.(2320-2322)aAg>aGg	p.K774R	SSH1_ENST00000360239.3_Missense_Mutation_p.K462R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	774					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGATTCTTCCTTTATTACCAC	0.468000													65	89					0	0	0.003610	0	0
SPATA16	83893	broad.mit.edu	37	3	172835472	172835472	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:172835472T>C	ENST00000351008.3	-	2	233	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	17					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGATCATGATAGATCCTATT	0.433000													104	160					0	0	0.003610	0	0
EPB42	2038	broad.mit.edu	37	15	43507460	43507460	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:43507460T>C	ENST00000300215.3	-	3	810	c.353A>G	c.(352-354)aAg>aGg	p.K118R	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.K88R			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	88					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACTCCACCACTTTCGGTCCCC	0.562000													29	88					0	0	0.007291	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175187	143175187	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:143175187C>A	ENST00000408916.1	+	1	222	c.222C>A	c.(220-222)gtC>gtA	p.V74V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	74					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCAGAAGGTCGAGTACTCTG	0.552000													25	110					2.21704e-12	3.8298e-12	0.002780	1	0
HMHB1	57824	broad.mit.edu	37	5	143200051	143200051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:143200051T>C	ENST00000289448.2	+	2	151	c.44T>C	c.(43-45)cTg>cCg	p.L15P	CTB-57H20.1_ENST00000503323.1_RNA	NM_021182.1	NP_067005.1	O97980	HMHB1_HUMAN	histocompatibility (minor) HB-1	15	Loss of recognition by cytotoxic T lymphocyte (CTL).												Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATAGGTTCTCTGCATGTTTGG	0.393000													34	73					0	0	0.003755	0	0
REG1A	5967	broad.mit.edu	37	2	79348716	79348716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:79348716G>T	ENST00000233735.1	+	3	196	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	31					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTGCCCCAGGCCCGGATCA	0.517000													101	219					4.18329e-38	8.42045e-38	0.003610	1	0
SLC5A5	6528	broad.mit.edu	37	19	18004623	18004623	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:18004623T>A	ENST00000222248.3	+	15	2216	c.1869T>A	c.(1867-1869)gcT>gcA	p.A623A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	623					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGAGGGGGCTGGCTCTTGGA	0.602000													5	10					0	0	0.000602	0	0
LRRC34	151827	broad.mit.edu	37	3	169514002	169514002	+	Splice_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:169514002G>C	ENST00000522526.2	-	8	1405	c.968_splice	c.e8+1	p.A323_splice	LRRC34_ENST00000446859.1_Splice_Site_p.A355_splice|LRRC34_ENST00000316515.7_Splice_Site_p.A310_splice|LRRC34_ENST00000522830.1_Splice_Site_p.A294_splice|LRRC34_ENST00000524327.1_5'UTR			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	310										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCATACTAACGCTTTAAGACT	0.303000													46	50					0	0	0.002852	0	0
REM1	28954	broad.mit.edu	37	20	30065673	30065673	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:30065673C>A	ENST00000201979.2	+	3	676	c.383C>A	c.(382-384)aCc>aAc	p.T128N		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	128					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAAGACACCACACTGGTG	0.562000													9	24					0.000673444	0.000949911	0.000673	1	0
DPP9	91039	broad.mit.edu	37	19	4704017	4704017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:4704017C>T	ENST00000262960.9	-	7	927	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	DPP9_ENST00000597849.1_Missense_Mutation_p.R217Q|DPP9_ENST00000594671.1_Missense_Mutation_p.R188Q|DPP9_ENST00000598800.1_Missense_Mutation_p.R188Q	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	188					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGGTCCATCCGGGGCCCTGA	0.637000													13	25					0	0	0.001855	0	0
SF3B1	23451	broad.mit.edu	37	2	198263271	198263271	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:198263271C>G	ENST00000335508.5	-	21	3139	c.3048G>C	c.(3046-3048)ctG>ctC	p.L1016L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1016					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTAGGCAGCAGATCTTTAA	0.353000			Mis		myelodysplastic syndrome								31	75					0	0	0.001512	0	0
EP400	57634	broad.mit.edu	37	12	132491392	132491392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:132491392G>A	ENST00000333577.4	+	16	3491	c.3382G>A	c.(3382-3384)Gct>Act	p.A1128T	EP400_ENST00000389562.2_Missense_Mutation_p.A1091T|EP400_ENST00000389561.2_Missense_Mutation_p.A1092T|EP400_ENST00000330386.6_Missense_Mutation_p.A1092T|EP400_ENST00000332482.4_Missense_Mutation_p.A1055T			Q96L91	EP400_HUMAN	E1A binding protein p400	1128	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGATCATTGCTTTTTTTGC	0.428000													24	36					0	0	0.002780	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858285	9858285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:9858285G>T	ENST00000396573.2	-	14	3425	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E	GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1039E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A882E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1039E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1039					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTATTCTCTGCTGTTGCCTC	0.537000													88	101					4.92795e-40	9.98362e-40	0.003610	1	0
LRRN1	57633	broad.mit.edu	37	3	3886778	3886778	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:3886778C>G	ENST00000319331.3	+	2	1214	c.453C>G	c.(451-453)aaC>aaG	p.N151K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	151						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCTACATCAACCACAACCAAA	0.398000													10	29					0	0	0.000673	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684161	33684161	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:33684161C>A	ENST00000504830.1	-	4	970		c.e4-1		ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAACACTGTCTAAACAGTAA	0.413000										HNSCC(64;0.19)			7	37					2.74318e-10	4.58664e-10	0.006214	1	0
TENM1	10178	broad.mit.edu	37	X	123615699	123615699	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:123615699C>A	ENST00000422452.2	-	22	3895	c.3832G>T	c.(3832-3834)Gat>Tat	p.D1278Y	TENM1_ENST00000371130.3_Missense_Mutation_p.D1271Y|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGGACAGATCTTTCGTCTCC	0.458000													53	44					2.43277e-16	4.47439e-16	0.003610	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022385	51022385	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:51022385C>A	ENST00000599957.1	-	3	782	c.585G>T	c.(583-585)ctG>ctT	p.L195L	LRRC4B_ENST00000389201.3_Silent_p.L195L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	195						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGATGTATTCCAGCCGCTTGA	0.652000													9	28					2.17888e-05	3.20343e-05	0.006214	1	0
SYNE1	23345	broad.mit.edu	37	6	152443676	152443676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:152443676G>T	ENST00000367255.5	-	146	26890	c.26289C>A	c.(26287-26289)tgC>tgA	p.C8763*	SYNE1_ENST00000354674.4_Nonsense_Mutation_p.C941*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.C3287*|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.C918*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.C8375*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.C8763*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8763	KASH.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTACAAGGCAGGCAAGCC	0.602000										HNSCC(10;0.0054)			14	60					9.31168e-06	1.37766e-05	0.001855	1	0
SMYD3	64754	broad.mit.edu	37	1	246518367	246518367	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:246518367C>A	ENST00000490107.1	-	2	233	c.17G>T	c.(16-18)tGc>tTc	p.C6F	SMYD3_ENST00000388985.4_Missense_Mutation_p.C65F|SMYD3_ENST00000541742.1_Missense_Mutation_p.C6F|SMYD3_ENST00000403792.3_Missense_Mutation_p.C65F	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	65						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGCGACGCGGCACTGAGAGCA	0.373000													11	37					1.5842e-08	2.54449e-08	0.001855	1	0
CTRB2	440387	broad.mit.edu	37	16	75238069	75238069	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:75238069G>T	ENST00000303037.8	-	7	825	c.782C>A	c.(781-783)gCc>gAc	p.A261D		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	261	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TCAGTTGGCGGCCAGGATCTT	0.607000													51	79					4.17463e-26	8.19205e-26	0.003610	1	0
NPY4R	5540	broad.mit.edu	37	10	47087815	47087815	+	Silent	SNP	C	C	G	rs142467576		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:47087815C>G	ENST00000374312.1	+	3	1451	c.1032C>G	c.(1030-1032)gcC>gcG	p.A344A	NPY4R_ENST00000395716.1_Silent_p.A344A	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		AGCAGAGCGCCCCCCTGGAGG	0.562000													17	82					0	0	0.004990	0	0
ZFP90	146198	broad.mit.edu	37	16	68591909	68591909	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:68591909G>A	ENST00000570495.1	+	3	334	c.42G>A	c.(40-42)gtG>gtA	p.V14V	ZFP90_ENST00000564323.1_Silent_p.V14V|ZFP90_ENST00000398253.2_Silent_p.V14V|ZFP90_ENST00000563169.2_Silent_p.V14V|ZFP90_ENST00000570884.1_3'UTR			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	14	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGGAATCAGTGACATTCAAAG	0.463000													22	135					0	0	0.002780	0	0
WDFY3	23001	broad.mit.edu	37	4	85657475	85657475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:85657475C>A	ENST00000322366.6	-	42	7170	c.6763G>T	c.(6763-6765)Gaa>Taa	p.E2255*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.E2255*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATTTCTTTTCATGGGCTATT	0.353000													14	25					9.31168e-06	1.37766e-05	0.001855	1	0
FIGNL1	63979	broad.mit.edu	37	7	50514817	50514817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:50514817T>A	ENST00000419119.1	-	2	1722	c.169A>T	c.(169-171)Aaa>Taa	p.K57*	FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K57*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	57					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGAACAGTTTGGTAGCACAG	0.393000													15	42					0	0	0.003163	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825963	31825963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:31825963T>A	ENST00000354297.4	+	3	334	c.263T>A	c.(262-264)cTt>cAt	p.L88H	BPIFA1_ENST00000375422.2_Missense_Mutation_p.L88H|BPIFA1_ENST00000375413.4_Missense_Mutation_p.L88H	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	88					innate immune response	extracellular region	lipid binding										GGTGGCCTCCTTGGGGGACTG	0.537000													25	97					0	0	0.003954	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373684	11373684	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:11373684A>C	ENST00000528848.2	-	1	1220	c.983T>G	c.(982-984)gTg>gGg	p.V328G	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CTGGTCCTTCACAACAGTGTA	0.547000													8	69					0	0	0.004482	0	0
NRROS	375387	broad.mit.edu	37	3	196388450	196388450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:196388450C>A	ENST00000328557.4	+	3	2139	c.1936C>A	c.(1936-1938)Ctg>Atg	p.L646M		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GTGGGAGCGGCTGGACCTGGG	0.637000													53	167					4.25531e-23	8.22987e-23	0.003610	1	0
FUT9	10690	broad.mit.edu	37	6	96651163	96651163	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:96651163C>A	ENST00000302103.5	+	3	458	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	44					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGAATCAGCCAGCTCTGTGC	0.403000													32	34					1.62565e-12	2.81859e-12	0.002445	1	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231308	29231308	+	RNA	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:29231308G>T	ENST00000441381.1	+	0	79																											ATGCAATTTTGACCATTGCAG	0.438000													9	48					1.58986e-06	2.39758e-06	0.000673	1	0
TSPAN16	26526	broad.mit.edu	37	19	11422874	11422874	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:11422874C>A	ENST00000316737.1	+	6	813	c.663C>A	c.(661-663)agC>agA	p.S221R	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.S196R|TSPAN16_ENST00000590327.1_Missense_Mutation_p.S221R	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	221						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGAGTGGGAGCTCTCTGGGAG	0.483000													4	19					0.00024832	0.000355067	0.000248	1	0
GDPD5	81544	broad.mit.edu	37	11	75150960	75150960	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:75150960G>T	ENST00000526177.1	-	11	2984	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	GDPD5_ENST00000376282.3_Missense_Mutation_p.S388Y|GDPD5_ENST00000533805.1_Missense_Mutation_p.S262Y|GDPD5_ENST00000336898.3_Missense_Mutation_p.S507Y|GDPD5_ENST00000533784.1_Missense_Mutation_p.S388Y|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.S507Y			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	507	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GAGGGTGAAGGAGACCAGGTC	0.627000													18	57					6.49762e-13	1.13497e-12	0.006122	1	0
TLR4	7099	broad.mit.edu	37	9	120476305	120476305	+	Silent	SNP	C	C	T	rs140661916		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:120476305C>T	ENST00000355622.6	+	3	2000	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.I593I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	633					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATAAGACCATCATTGGTGTGT	0.438000													6	35					0	0	0.001168	0	0
ATP8B1	5205	broad.mit.edu	37	18	55368510	55368510	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr18:55368510G>A	ENST00000536015.1	-	5	548	c.429C>T	c.(427-429)acC>acT	p.T143T	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000283684.4_Silent_p.T143T|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	143					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCACTAGTGTGGTGTACCAAG	0.458000													23	18					0	0	0.004656	0	0
VEGFC	7424	broad.mit.edu	37	4	177649124	177649124	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:177649124T>A	ENST00000280193.2	-	3	777		c.e3-2		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TATCAATACCTGTCAAGTCAT	0.413000													18	45					0	0	0.007413	0	0
PDE3A	5139	broad.mit.edu	37	12	20769241	20769241	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:20769241T>C	ENST00000359062.3	+	4	1387	c.1347T>C	c.(1345-1347)ggT>ggC	p.G449G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGGCCACAGGTCTACCCACCT	0.562000													35	82					0	0	0.005524	0	0
ZNF133	7692	broad.mit.edu	37	20	18297420	18297420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:18297420C>T	ENST00000377671.3	+	7	2481	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	ZNF133_ENST00000535822.1_Missense_Mutation_p.P547L|ZNF133_ENST00000401790.1_Missense_Mutation_p.P642L|ZNF133_ENST00000396026.3_Missense_Mutation_p.P645L|ZNF133_ENST00000402618.2_Missense_Mutation_p.P579L|ZNF133_ENST00000538547.1_Missense_Mutation_p.P547L|ZNF133_ENST00000316358.4_Missense_Mutation_p.P642L|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	642						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GACCCTGAGCCGTGTGCAGGG	0.537000													23	89					0	0	0.001882	0	0
FABP6	2172	broad.mit.edu	37	5	159659189	159659189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:159659189C>A	ENST00000393980.4	+	5	445	c.299C>A	c.(298-300)tCc>tAc	p.S100Y	FABP6_ENST00000393982.1_Missense_Mutation_p.S100Y|FABP6_ENST00000402432.3_Missense_Mutation_p.S51Y	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	51					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCACTTGGTCCCAGCACTAC	0.562000													9	8					0.000442599	0.000628076	0.006214	1	0
MYH6	4624	broad.mit.edu	37	14	23862578	23862578	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:23862578C>A	ENST00000405093.3	-	23	3148	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	MYH6_ENST00000356287.3_Missense_Mutation_p.K1026N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1026					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTTGACCTTAGACTTGG	0.517000													36	145					2.20474e-14	3.95419e-14	0.003755	1	0
ELMO1	9844	broad.mit.edu	37	7	36895281	36895281	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:36895281C>A	ENST00000310758.4	-	22	2706	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y	ELMO1_ENST00000396040.2_Missense_Mutation_p.D207Y|ELMO1_ENST00000396045.3_Missense_Mutation_p.D207Y|ELMO1_ENST00000448602.1_Missense_Mutation_p.D687Y|ELMO1_ENST00000442504.1_Missense_Mutation_p.D687Y|ELMO1_ENST00000341056.3_Missense_Mutation_p.D389Y	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	687					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGCAGGGTGTCCAGGTCATTC	0.577000													39	99					2.59497e-14	4.62753e-14	0.007835	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709144	38709144	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:38709144T>C	ENST00000417039.1	-	0	696																											CGCGGGAAGGTCGTGGTGCTG	0.537000													6	68					0	0	0.003080	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104054596	104054596	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:104054596T>G	ENST00000395862.3	+	3	320	c.161T>G	c.(160-162)tTg>tGg	p.L54W	ATP6V1C1_ENST00000521514.1_5'UTR|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L54W|ATP6V1C1_ENST00000518857.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	54					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTGGTTGGCTTGTCAGATGAA	0.363000													75	45					0	0	0.003610	0	0
DDX58	23586	broad.mit.edu	37	9	32493895	32493895	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:32493895T>G	ENST00000379882.1	-	2	309	c.152A>C	c.(151-153)aAa>aCa	p.K51T	DDX58_ENST00000379883.2_Missense_Mutation_p.K96T|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.K25T|DDX58_ENST00000545044.1_5'UTR			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	96	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTTTCAATTTTTTTGAAATC	0.294000													19	5					0	0	0.001216	0	0
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:201846100G>T	ENST00000418596.2	-	12	1673	c.1486C>A	c.(1486-1488)Cgg>Agg	p.R496R	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	496						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512000													4	45					0.00024832	0.000355067	0.000248	1	0
SALL1	6299	broad.mit.edu	37	16	51174936	51174936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:51174936G>T	ENST00000440970.1	-	2	1337	c.906C>A	c.(904-906)aaC>aaA	p.N302K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.N399K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	399					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAAAACCGAGTTAGCGGAGG	0.498000													32	148					1.62565e-12	2.81859e-12	0.002445	1	0
ZFP42	132625	broad.mit.edu	37	4	188924027	188924027	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:188924027C>A	ENST00000326866.4	+	4	474	c.66C>A	c.(64-66)ccC>ccA	p.P22P	ZFP42_ENST00000509524.1_Silent_p.P22P	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	22					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGAGCCCCCAGTGGGGCTA	0.552000													16	88					3.52763e-06	5.27738e-06	0.004990	1	0
ANK3	288	broad.mit.edu	37	10	61830610	61830610	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:61830610T>C	ENST00000280772.1	-	37	10220	c.10029A>G	c.(10027-10029)caA>caG	p.Q3343Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3343					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTTTCTTTTTGTTCATCGT	0.403000													43	85					0	0	0.007835	0	0
SOX8	30812	broad.mit.edu	37	16	1035270	1035270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:1035270C>T	ENST00000293894.3	+	3	1340	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	409					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCTGCTTCCACTCGCCGCG	0.697000													10	40					0	0	0.000978	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801353	185801353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:185801353T>A	ENST00000302277.6	+	4	1824	c.1230T>A	c.(1228-1230)acT>acA	p.T410T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTAACATAACTATACATAAGA	0.383000													34	106					0	0	0.003271	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369225	20369225	+	RNA	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:20369225A>C	ENST00000593655.1	-	0	199																											GTGATGAGGCAAGTGAATTAC	0.418000													17	91					0	0	0.004990	0	0
FMO2	2327	broad.mit.edu	37	1	171168602	171168602	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:171168602T>G	ENST00000441535.1	+	5	719	c.602T>G	c.(601-603)gTt>gGt	p.V201G	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.V201G|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	201					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATTGCTGTTGAGCTGAGT	0.498000													15	89					0	0	0.004990	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	107					0	0	0.000602	0	0
KIF20B	9585	broad.mit.edu	37	10	91497825	91497825	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:91497825A>C	ENST00000416354.1	+	20	3389	c.3317A>C	c.(3316-3318)cAt>cCt	p.H1106P	KIF20B_ENST00000371728.3_Missense_Mutation_p.H1076P|KIF20B_ENST00000260753.4_Missense_Mutation_p.H1036P|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.H1076P			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1076					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAGTCATCAGATTGAG	0.358000													19	45					0	0	0.007413	0	0
NMI	9111	broad.mit.edu	37	2	152138463	152138463	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:152138463T>C	ENST00000243346.5	-	3	646	c.177_splice	c.e3+1	p.Q59_splice		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	59					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGAGAGTACCTGGAATTCTTT	0.284000													14	53					0	0	0.001855	0	0
FBLN7	129804	broad.mit.edu	37	2	112942839	112942839	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:112942839C>T	ENST00000331203.2	+	7	1141	c.870C>T	c.(868-870)acC>acT	p.T290T	FBLN7_ENST00000409450.3_Silent_p.T244T|FBLN7_ENST00000409667.3_Silent_p.T156T|FBLN7_ENST00000409903.1_Silent_p.T290T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	290	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.T290T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCATCAACACCGGTGGAAGCT	0.582000													20	89					0	0	0.007413	0	0
PREX1	57580	broad.mit.edu	37	20	47246080	47246080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:47246080C>T	ENST00000371941.3	-	37	4695	c.4673G>A	c.(4672-4674)gGg>gAg	p.G1558E	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1558					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCACACTCCCAGCAGCACC	0.622000													26	108					0	0	0.004656	0	0
IGSF5	150084	broad.mit.edu	37	21	41142930	41142930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:41142930C>A	ENST00000380588.4	+	4	609	c.506C>A	c.(505-507)aCc>aAc	p.T169N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	169	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCACACTGGACCCGGCTCCCG	0.483000													31	20					3.99451e-17	7.39023e-17	0.001786	1	0
FGR	2268	broad.mit.edu	37	1	27949593	27949593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:27949593T>A	ENST00000374005.3	-	4	577	c.289A>T	c.(289-291)Acc>Tcc	p.T97S	FGR_ENST00000399173.1_Missense_Mutation_p.T97S|FGR_ENST00000545953.1_Missense_Mutation_p.T97S|FGR_ENST00000374004.1_Missense_Mutation_p.T97S	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	97	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGTGAAGGTGAGGTCATCC	0.557000													16	60					0	0	0.003163	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509197	110509197	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:110509197T>A	ENST00000378402.5	+	64	10481	c.10377T>A	c.(10375-10377)ggT>ggA	p.G3459G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3459					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCATGGAGGTTTATATGGGA	0.388000										HNSCC(38;0.096)			38	93					0	0	0.006230	0	0
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:20871907T>A	ENST00000262715.5	-	6	1209	c.1169A>T	c.(1168-1170)cAc>cTc	p.H390L	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627000													37	79					0	0	0.006999	0	0
PCED1B	91523	broad.mit.edu	37	12	47629873	47629873	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:47629873T>C	ENST00000546455.1	+	4	1758	c.1027T>C	c.(1027-1029)Tcc>Ccc	p.S343P	PCED1B_ENST00000432328.1_Missense_Mutation_p.S343P					PC-esterase domain containing 1B																		TGCCTGTTTTTCCTCAGACCA	0.547000													13	207					0	0	0.001368	0	0
BAGE2	85319	broad.mit.edu	37	21	11058282	11058282	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:11058282G>A	ENST00000470054.1	-	0	365									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403000													5	140					0	0	0.001168	0	0
COL22A1	169044	broad.mit.edu	37	8	139824102	139824102	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:139824102T>A	ENST00000303045.6	-	9	1835	c.1389A>T	c.(1387-1389)ccA>ccT	p.P463P	COL22A1_ENST00000435777.1_Silent_p.P463P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	463	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTCACTGCCTGGGGTGGGAG	0.602000										HNSCC(7;0.00092)			8	30					0	0	0.003080	0	0
NDST3	9348	broad.mit.edu	37	4	118975575	118975575	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:118975575G>T	ENST00000296499.5	+	2	913	c.510G>T	c.(508-510)aaG>aaT	p.K170N	NDST3_ENST00000433996.2_Missense_Mutation_p.K170N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	170	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTAGTGAGAAGAGTGTACAGA	0.348000													23	36					1.10923e-09	1.82217e-09	0.002780	1	0
IK	3550	broad.mit.edu	37	5	140033549	140033549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:140033549G>A	ENST00000417647.2	+	6	570	c.431G>A	c.(430-432)aGa>aAa	p.R144K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	144					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAGAAGACAGTTGATC	0.478000													14	9					0	0	0.001855	0	0
PLAA	9373	broad.mit.edu	37	9	26925866	26925866	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:26925866A>G	ENST00000397292.3	-	6	1243	c.826T>C	c.(826-828)Tgc>Cgc	p.C276R	PLAA_ENST00000520884.1_Missense_Mutation_p.C276R	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	276					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACACAGCAGCACCATATAGAC	0.418000													21	13					0	0	0.003954	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111735078	111735078	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:111735078T>C	ENST00000374595.4	-	9	1303	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000325551.4_Silent_p.L408L|CTNNAL1_ENST00000488130.1_5'UTR			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	408					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGTATTTTAATAGATCTGCTG	0.453000													27	69					0	0	0.001786	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731999	227731999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:227731999G>T	ENST00000392062.2	+	5	1055	c.531G>T	c.(529-531)tgG>tgT	p.W177C	RHBDD1_ENST00000341329.3_Missense_Mutation_p.W177C	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	177						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGCTTGTTGGGTCGAACTTG	0.398000													80	79					9.11151e-29	1.81456e-28	0.003610	1	0
COL3A1	1281	broad.mit.edu	37	2	189868759	189868759	+	Missense_Mutation	SNP	C	C	A	rs112640146		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:189868759C>A	ENST00000304636.3	+	39	2883	c.2713C>A	c.(2713-2715)Cca>Aca	p.P905T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	905	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATGGGCCCCCAGGTCCTGC	0.527000													6	27					0.00116845	0.00164565	0.001168	1	0
CDH4	1002	broad.mit.edu	37	20	60511804	60511804	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:60511804G>T	ENST00000360469.5	+	16	2642	c.2554G>T	c.(2554-2556)Gct>Tct	p.A852S	CDH4_ENST00000543233.1_Missense_Mutation_p.A778S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	852					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACTCCGCGCTGCTGACAA	0.642000													8	43					5.18039e-06	7.71303e-06	0.003080	1	0
PLEC	5339	broad.mit.edu	37	8	144996134	144996134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:144996134G>T	ENST00000322810.4	-	32	8435	c.8266C>A	c.(8266-8268)Cag>Aag	p.Q2756K	PLEC_ENST00000356346.3_Missense_Mutation_p.Q2605K|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2642K|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2623K|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2646K|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2597K|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2587K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2756	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCCACCTGCGAGGCAGTG	0.682000													20	34					3.51602e-12	6.02929e-12	0.001216	1	0
LRIF1	55791	broad.mit.edu	37	1	111492660	111492660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:111492660G>T	ENST00000369763.4	-	3	2072	c.1682C>A	c.(1681-1683)gCa>gAa	p.A561E	LRIF1_ENST00000485275.2_Missense_Mutation_p.A25E|LRIF1_ENST00000494675.1_Missense_Mutation_p.A25E|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGATGTAATGCCTTATTACT	0.378000													13	24					5.50884e-06	8.18905e-06	0.001368	1	0
TRAV25	28658	broad.mit.edu	37	14	22580396	22580396	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:22580396G>A	ENST00000390454.2	+	0	97																											TCACATCAATGTTGGTCTTAT	0.448000													26	73					0	0	0.005443	0	0
ZNF616	90317	broad.mit.edu	37	19	52619407	52619407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:52619407C>A	ENST00000600228.1	-	4	1271	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAGGTTTGAGCTCCGTTTAAA	0.398000													32	120					6.50621e-10	1.07634e-09	0.002836	1	0
TFAP2B	7021	broad.mit.edu	37	6	50803949	50803949	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:50803949C>G	ENST00000263046.4	+	5	970	c.804C>G	c.(802-804)ccC>ccG	p.P268P	TFAP2B_ENST00000393655.3_Silent_p.P259P			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	259					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCTGTCGCCCCCTGAATGCC	0.498000													25	26					0	0	0.002780	0	0
MKL1	57591	broad.mit.edu	37	22	40815102	40815102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:40815102G>A	ENST00000396617.3	-	12	1930	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	MKL1_ENST00000402042.1_Missense_Mutation_p.T397M|MKL1_ENST00000407029.1_Missense_Mutation_p.T447M|MKL1_ENST00000355630.3_Missense_Mutation_p.T447M			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	447					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.T447M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGTGGAGCCCGTGCTGCCAAA	0.692000			T	RBM15	acute megakaryocytic leukemia								9	14					0	0	0.004482	0	0
OR2F1	26211	broad.mit.edu	37	7	143657334	143657334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:143657334G>T	ENST00000392899.1	+	1	308	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGAACATAAAGCCATCCCATT	0.502000													49	178					7.77372e-23	1.50036e-22	0.003610	1	0
BLOC1S1	2647	broad.mit.edu	37	12	56113343	56113343	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:56113343A>T	ENST00000547076.1	+	4	693	c.178A>T	c.(178-180)Act>Tct	p.T60S	BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.T60S|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.T110S|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.T138S			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	138					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CACCATTGCCACTGCACTGGA	0.602000													29	58					0	0	0.002096	0	0
PCDH20	64881	broad.mit.edu	37	13	61987508	61987508	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr13:61987508T>C	ENST00000409186.1	-	5	2829	c.724A>G	c.(724-726)Aat>Gat	p.N242D	PCDH20_ENST00000409204.4_Missense_Mutation_p.N242D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	215	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTACCCCATTAATGCCTACA	0.532000													50	45					0	0	0.003610	0	0
RNASE4	6038	broad.mit.edu	37	14	21167532	21167532	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:21167532T>A	ENST00000555835.1	+	2	678	c.2T>A	c.(1-3)aTg>aAg	p.M1K	RNASE4_ENST00000304704.4_Start_Codon_SNP_p.M1K|RNASE4_ENST00000397995.2_Start_Codon_SNP_p.M1K|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Start_Codon_SNP_p.M1K|AL163636.6_ENST00000553909.1_RNA	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	1					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAGATACTGATGGCTCTGCAG	0.532000													32	100					0	0	0.001786	0	0
GABRR2	2570	broad.mit.edu	37	6	89975369	89975369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:89975369C>A	ENST00000402938.3	-	7	985	c.852G>T	c.(850-852)tgG>tgT	p.W284C	GABRR2_ENST00000602399.1_Missense_Mutation_p.W309C			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	309					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGCGGTCGATCCAGAAGGACA	0.453000													22	37					4.4004e-07	6.84507e-07	0.003330	1	0
NLRP3	114548	broad.mit.edu	37	1	247587342	247587342	+	Silent	SNP	C	C	T	rs3806267		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:247587342C>T	ENST00000366497.2	+	4	1377	c.597C>T	c.(595-597)ccC>ccT	p.P199P	NLRP3_ENST00000348069.2_Silent_p.P199P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.P199P|NLRP3_ENST00000391827.2_Silent_p.P199P|NLRP3_ENST00000391828.3_Silent_p.P199P|NLRP3_ENST00000336119.3_Silent_p.P199P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	199					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGCCCCGTGAGTCCCA	0.582000													21	26					0	0	0.001216	0	0
COL14A1	7373	broad.mit.edu	37	8	121290348	121290348	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:121290348A>T	ENST00000297848.3	+	27	3483		c.e27-1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTCTCTCCAGGTTGCAATG	0.373000													28	126					0	0	0.001786	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672100	39672100	+	Missense_Mutation	SNP	A	A	T	rs143222338	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr21:39672100A>T	ENST00000398930.1	+	4	1271	c.917A>T	c.(916-918)tAc>tTc	p.Y306F	KCNJ15_ENST00000398938.2_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Y306F|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Y306F			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	306					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GAGGAAATCTACTGGGGTTTT	0.468000													23	13					0	0	0.002780	0	0
HAS3	3038	broad.mit.edu	37	16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:69148385G>C	ENST00000306560.1	+	4	1034	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.S293T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	293					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597000													26	87					0	0	0.005443	0	0
EYS	346007	broad.mit.edu	37	6	66044978	66044978	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:66044978C>G	ENST00000503581.1	-	11	2198	c.1661G>C	c.(1660-1662)tGt>tCt	p.C554S	EYS_ENST00000393380.2_Missense_Mutation_p.C554S|EYS_ENST00000370616.2_Missense_Mutation_p.C554S|EYS_ENST00000370618.3_Missense_Mutation_p.C554S|EYS_ENST00000370621.3_Missense_Mutation_p.C554S|EYS_ENST00000342421.5_Missense_Mutation_p.C554S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	554					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTGAGAAAACATAGATACCG	0.348000													14	33					0	0	0.001855	0	0
TGM4	7047	broad.mit.edu	37	3	44952882	44952882	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:44952882C>A	ENST00000296125.4	+	13	1965	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	633					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCCTCACTACAGACCTCTGA	0.458000													29	69					1.80694e-10	3.02663e-10	0.001786	1	0
SLC22A1	6580	broad.mit.edu	37	6	160557345	160557345	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:160557345G>A	ENST00000366963.4	+	5	1080	c.933G>A	c.(931-933)aaG>aaA	p.K311K	SLC22A1_ENST00000324965.4_Silent_p.K311K|SLC22A1_ENST00000457470.2_Silent_p.K311K	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	311						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGAATGGGAAGTTGCCTCCTG	0.498000													22	40					0	0	0.002299	0	0
AQP9	366	broad.mit.edu	37	15	58458911	58458911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:58458911C>T	ENST00000219919.4	+	2	521	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AQP9_ENST00000558772.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Nonsense_Mutation_p.R51*	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	51					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.R51*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATTCTCAGTCGAGGACGTTT	0.468000													51	186					0	0	0.003610	0	0
OR4C12	283093	broad.mit.edu	37	11	50003578	50003578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:50003578C>T	ENST00000335238.4	-	1	493	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAATAGTTGCATGAAGAAAT	0.478000													42	162					0	0	0.003214	0	0
LRP1B	53353	broad.mit.edu	37	2	141458106	141458106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:141458106G>T	ENST00000389484.3	-	41	7483	c.6512C>A	c.(6511-6513)gCc>gAc	p.A2171D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2171	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCCATGGGCACAAGCACA	0.408000										TSP Lung(27;0.18)			14	91					2.62699e-14	4.67574e-14	0.003163	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119236160	119236160	+	Silent	SNP	G	G	A	rs150396264	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:119236160G>A	ENST00000494664.1	+	6	907	c.705G>A	c.(703-705)gaG>gaA	p.E235E	TIMMDC1_ENST00000493694.1_Silent_p.E101E	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	235						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						AACTGGAAGAGTGGTAAGGAA	0.458000													90	73					0	0	0.003610	0	0
GLYR1	84656	broad.mit.edu	37	16	4861228	4861228	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:4861228G>T	ENST00000321919.9	-	15	1606	c.1530C>A	c.(1528-1530)gcC>gcA	p.A510A	GLYR1_ENST00000591451.1_Silent_p.A504A|GLYR1_ENST00000381983.3_Silent_p.A493A|GLYR1_ENST00000436648.5_Silent_p.A429A	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	510					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCAGCGCAATGGCTAAGCGGA	0.498000													35	119					4.62619e-21	8.83781e-21	0.004289	1	0
ALG12	79087	broad.mit.edu	37	22	50307385	50307385	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:50307385C>A	ENST00000330817.5	-	2	302	c.29G>T	c.(28-30)cGg>cTg	p.R10L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	10					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGGGGCCGCCTGCCTGA	0.602000													36	114					1.30998e-17	2.45262e-17	0.005524	1	0
BDP1	55814	broad.mit.edu	37	5	70835391	70835391	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:70835391T>C	ENST00000358731.4	+	28	6200	c.5937T>C	c.(5935-5937)aaT>aaC	p.N1979N	BDP1_ENST00000380675.2_Silent_p.N116N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1979					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTACCAATGATGGAAGCA	0.348000													10	23					0	0	0.006214	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784840	90784840	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:90784840C>A	ENST00000558017.1	+	4	1120	c.700C>A	c.(700-702)Cca>Aca	p.P234T	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P234T	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	234					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GGAGCAGGCGCCAAGCGAGCC	0.632000													20	64					2.37509e-13	4.17198e-13	0.001523	1	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	99					0	0	0.000248	0	0
LDB2	9079	broad.mit.edu	37	4	16513685	16513685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:16513685G>A	ENST00000502640.1	-	6	806	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	LDB2_ENST00000503178.2_Missense_Mutation_p.H96Y|LDB2_ENST00000304523.5_Missense_Mutation_p.H220Y|LDB2_ENST00000441778.2_Missense_Mutation_p.H220Y|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.H220Y			O43679	LDB2_HUMAN	LIM domain binding 2	220							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TAAGTTTTATGTCTCGACATC	0.443000													16	24					0	0	0.004007	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677790	3677790	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:3677790G>A	ENST00000344754.4	-	9	2321	c.2322C>T	c.(2320-2322)tgC>tgT	p.C774C	SIGLEC1_ENST00000202578.4_Silent_p.C774C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	774	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCAGGATGCGGCAGGCGTAAA	0.637000													23	62					0	0	0.003330	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95668588	95668588	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:95668588G>T	ENST00000324972.6	+	14	1608		c.e14-1		DYNC1I1_ENST00000359388.4_Splice_Site|DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000497626.1_Splice_Site|DYNC1I1_ENST00000457059.1_Splice_Site|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000537881.1_Splice_Site	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTCCTACAGCAAAGCAGGT	0.448000													33	161					2.49991e-28	4.96805e-28	0.003271	1	0
VPS11	55823	broad.mit.edu	37	11	118944567	118944567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:118944567C>G	ENST00000300793.6	+	8	1183	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	382					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GAGCCAGCATCTGGACAGTGA	0.478000													7	24					0	0	0.003080	0	0
C12orf74	338809	broad.mit.edu	37	12	93101490	93101490	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:93101490G>T	ENST00000397833.3	+	3	1023	c.572G>T	c.(571-573)tGa>tTa	p.*191L	C12orf74_ENST00000544406.2_3'UTR	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	0										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GACATCTGTTGACTATTTACT	0.363000													6	32					0.00198382	0.0027815	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179578835	179578835	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179578835C>T	ENST00000589042.1	-	92	26774	c.26550G>A	c.(26548-26550)gaG>gaA	p.E8850E	TTN_ENST00000591111.1_Silent_p.E8533E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.E7606E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8533	Ig-like 71.			A -> P (in Ref. 1; CAA62189).			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)			CTACTGTACACTCCAAGGTAC	0.388000													8	36					0	0	0.004482	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283417	126283417	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:126283417G>C	ENST00000526727.1	+	9	1163	c.789G>C	c.(787-789)ctG>ctC	p.L263L	ST3GAL4_ENST00000227495.6_Silent_p.L259L|ST3GAL4_ENST00000392669.2_Silent_p.L263L|ST3GAL4_ENST00000530591.1_Silent_p.L259L|ST3GAL4_ENST00000444328.2_Silent_p.L263L|ST3GAL4_ENST00000356132.4_Silent_p.L269L|ST3GAL4_ENST00000534083.1_Silent_p.L263L|ST3GAL4_ENST00000532243.1_Silent_p.L262L|ST3GAL4_ENST00000449406.2_Silent_p.L252L|ST3GAL4_ENST00000534457.1_Silent_p.L258L			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	263					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CCACGGGCCTGTTGGCCATCA	0.592000													13	27					0	0	0.001368	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727933	20727933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:20727933T>A	ENST00000427401.4	-	4	1170	c.1076A>T	c.(1075-1077)cAc>cTc	p.H359L		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTATCTTGTGTGTAGTAAG	0.388000													20	73					0	0	0.001216	0	0
CNGA2	1260	broad.mit.edu	37	X	150912139	150912139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:150912139G>T	ENST00000329903.4	+	6	1197	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	388					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGCTAAGATCGATGCCG	0.502000													17	77					1.5739e-10	2.64099e-10	0.004007	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475671	140475671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:140475671C>A	ENST00000194155.4	+	1	1445	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		433	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCCAGGCTGAAAACCGA	0.557000													79	51					3.00167e-28	5.95258e-28	0.003610	1	0
CCDC170	80129	broad.mit.edu	37	6	151917620	151917620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:151917620A>C	ENST00000367290.5	+	9	1707	c.1618A>C	c.(1618-1620)Aag>Cag	p.K540Q	CCDC170_ENST00000239374.7_Missense_Mutation_p.K540Q			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	540																	GAACTTGCAGAAGAAGGTGGA	0.562000													21	74					0	0	0.001216	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890840	23890840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:23890840G>A	ENST00000532292.1	-	1	335	c.241C>T	c.(241-243)Cct>Tct	p.P81S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCAGGAAGGCTGGAGCGGC	0.667000													6	9					0	0	0.001168	0	0
LRP2	4036	broad.mit.edu	37	2	170028586	170028586	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:170028586A>G	ENST00000263816.3	-	58	11487	c.11202T>C	c.(11200-11202)ccT>ccC	p.P3734P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3734	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCCAACGAAGAGGGATGCAGT	0.473000													41	45					0	0	0.006999	0	0
MARCH1	55016	broad.mit.edu	37	4	164534561	164534561	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:164534561A>G	ENST00000339875.5	-	1	125	c.96T>C	c.(94-96)tcT>tcC	p.S32S	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	49	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAACAAGTTAGATAATTTGG	0.438000													49	35					0	0	0.003610	0	0
GABRP	2568	broad.mit.edu	37	5	170239158	170239158	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:170239158A>G	ENST00000518525.1	+	11	1683	c.1219A>G	c.(1219-1221)Aca>Gca	p.T407A	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.T407A			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	407						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGATTATTTCACAATTCAAAA	0.373000													13	33					0	0	0.001855	0	0
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463000													117	264					0	0	0.003610	0	0
NDST3	9348	broad.mit.edu	37	4	118975167	118975167	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:118975167C>T	ENST00000296499.5	+	2	505	c.102C>T	c.(100-102)taC>taT	p.Y34Y	NDST3_ENST00000433996.2_Silent_p.Y34Y	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	34						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACTACCTGTACAGTGGCTACA	0.413000													23	94					0	0	0.003330	0	0
ANK2	287	broad.mit.edu	37	4	114278239	114278239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:114278239C>T	ENST00000357077.4	+	38	8518	c.8465C>T	c.(8464-8466)aCa>aTa	p.T2822I	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2789I|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2789					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAAGACACAGAGGGAGAA	0.438000													62	51					0	0	0.003610	0	0
BOLL	66037	broad.mit.edu	37	2	198646475	198646475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:198646475G>A	ENST00000321801.7	-	2	706	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	BOLL_ENST00000430004.1_Missense_Mutation_p.R34C|BOLL_ENST00000392296.4_Missense_Mutation_p.R34C|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000433157.1_Missense_Mutation_p.R34C	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	34	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACAAAGATGCGATTAGGGATC	0.363000													27	98					0	0	0.001512	0	0
KIF21A	55605	broad.mit.edu	37	12	39724658	39724658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:39724658T>G	ENST00000395670.3	-	23	3628	c.3209A>C	c.(3208-3210)aAa>aCa	p.K1070T	KIF21A_ENST00000544797.2_Missense_Mutation_p.K1057T|KIF21A_ENST00000541463.2_Missense_Mutation_p.K1034T|KIF21A_ENST00000361418.5_Missense_Mutation_p.K1070T|KIF21A_ENST00000361961.3_Missense_Mutation_p.K1057T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1070					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGTTTGTTTGAGTCGACC	0.403000													14	55					0	0	0.002450	0	0
PRTG	283659	broad.mit.edu	37	15	55965629	55965629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:55965629C>T	ENST00000389286.4	-	10	1839	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	598	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTCCCAGCCCCACTCTGGTG	0.488000													18	70					0	0	0.006122	0	0
AFF3	3899	broad.mit.edu	37	2	100199351	100199351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:100199351C>A	ENST00000317233.4	-	16	2937	c.2702G>T	c.(2701-2703)cGa>cTa	p.R901L	AFF3_ENST00000409579.1_Missense_Mutation_p.R926L|AFF3_ENST00000409236.1_Missense_Mutation_p.R901L|AFF3_ENST00000356421.2_Missense_Mutation_p.R926L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	901					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCATTAGGTCGGCTGGAAGA	0.483000													29	42					7.38237e-10	1.21699e-09	0.006320	1	0
SEL1L2	80343	broad.mit.edu	37	20	13840045	13840045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:13840045G>T	ENST00000284951.5	-	18	1755	c.1681C>A	c.(1681-1683)Cat>Aat	p.H561N	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	561						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATAGTAATGGTAATCTCCA	0.368000													6	39					8.12818e-05	0.000117296	0.001984	1	0
ZNF462	58499	broad.mit.edu	37	9	109687822	109687822	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:109687822G>C	ENST00000277225.5	+	3	1918	c.1629G>C	c.(1627-1629)ccG>ccC	p.P543P	ZNF462_ENST00000457913.1_Silent_p.P543P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	543					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGccaccgcagccaccac	0.592000													5	32					0	0	0.003080	0	0
LAMB1	3912	broad.mit.edu	37	7	107599899	107599899	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:107599899C>A	ENST00000393561.1	-	18	2741	c.2557G>T	c.(2557-2559)Gtc>Ttc	p.V853F	LAMB1_ENST00000222399.6_Missense_Mutation_p.V829F			P07942	LAMB1_HUMAN	laminin, beta 1	829	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGCATTGACAGATCCTTGC	0.507000													17	59					1.67942e-08	2.67907e-08	0.006122	1	0
ATP5L2	267020	broad.mit.edu	37	22	43036197	43036197	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:43036197G>A	ENST00000505920.1	-	1	410	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000361740.4_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	28					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						ACCAAAATGCGGCCAATCGAG	0.507000													4	20					0	0	0.000248	0	0
INPP5D	3635	broad.mit.edu	37	2	234112790	234112790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:234112790G>C	ENST00000359570.5	+	28	2958	c.2958G>C	c.(2956-2958)aaG>aaC	p.986_986insN	INPP5D_ENST00000455936.2_Missense_Mutation_p.750_750insN|INPP5D_ENST00000450745.1_Missense_Mutation_p.750_750insN			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCTGGGGAAGAACGCAGGGG	0.597000													4	11					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179612696	179612696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179612696C>A	ENST00000360870.5	-	46	14653	c.14431G>T	c.(14431-14433)Gac>Tac	p.D4811Y	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	921	Ig-like 28.						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)			CCTCTGTGGTCTTCCAAAGTG	0.483000													9	52					0.000274275	0.000390395	0.004482	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142231843	142231843	+	RNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:142231843T>C	ENST00000390364.3	-	0	141																											TCTTGGGCTCTGGGTGATTTC	0.502000													25	104					0	0	0.004656	0	0
MAP3K1	4214	broad.mit.edu	37	5	56168720	56168720	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:56168720A>T	ENST00000399503.3	+	9	1574	c.1574A>T	c.(1573-1575)cAg>cTg	p.Q525L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	525					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCGTACAGCAGCAGCCTTTG	0.433000													20	17					0	0	0.001523	0	0
ACAP1	9744	broad.mit.edu	37	17	7239939	7239939	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:7239939A>T	ENST00000158762.3	+	0	92					NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1						intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TTCCCCGCGGAGGTCCCTCTC	0.677000													8	13					0	0	0.003080	0	0
DSP	1832	broad.mit.edu	37	6	7583613	7583613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:7583613A>G	ENST00000379802.3	+	24	6459	c.6118A>G	c.(6118-6120)Atc>Gtc	p.I2040V	DSP_ENST00000418664.2_Missense_Mutation_p.I1441V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2040	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAATTAATCAGCCCAGA	0.488000													40	41					0	0	0.006999	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917998	56917998	+	Silent	SNP	G	G	T	rs138625602		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:56917998G>T	ENST00000438926.2	+	14	1736	c.1707G>T	c.(1705-1707)gcG>gcT	p.A569A	SLC12A3_ENST00000566786.1_Silent_p.A568A|SLC12A3_ENST00000563236.1_Silent_p.A569A|SLC12A3_ENST00000262502.5_Silent_p.A568A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	569			A -> E (in GS).|A -> V (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACAAGTGGGCGGCGCTGTTTG	0.592000													10	83					1.08611e-07	1.70078e-07	0.000978	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590088	140590088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:140590088G>T	ENST00000239450.2	+	1	1798	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G200C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G537S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCACGGCTCCCCGGC	0.677000													49	29					5.34276e-22	1.02485e-21	0.003610	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65349325	65349325	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:65349325G>C	ENST00000284037.5	+	21	2568	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D723H	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	727					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATAAAAAAGATTTTAACTT	0.308000													22	67					0	0	0.002299	0	0
MYC	4609	broad.mit.edu	37	8	128753114	128753114	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:128753114G>A	ENST00000377970.2	+	3	1785	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	MYC_ENST00000524013.1_Silent_p.E424E	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	410	Leucine-zipper.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCAGAGGAGCAAAAGCTCA	0.458000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								42	282					0	0	0.006999	0	0
MFN1	55669	broad.mit.edu	37	3	179107824	179107824	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:179107824A>T	ENST00000471841.1	+	17	2171	c.2045A>T	c.(2044-2046)cAa>cTa	p.Q682L	MFN1_ENST00000280653.7_Missense_Mutation_p.Q571L|MFN1_ENST00000263969.5_Missense_Mutation_p.Q682L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	682					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCCTGTGCCAACAAGTTGAT	0.308000													15	80					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9062568	9062568	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:9062568G>T	ENST00000397910.4	-	3	25081	c.24878C>A	c.(24877-24879)tCt>tAt	p.S8293Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8295	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGGAAGAGAAGCGGAAGG	0.512000													16	79					1.3612e-06	2.05937e-06	0.003163	1	0
CRYBB3	1417	broad.mit.edu	37	22	25601255	25601255	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr22:25601255G>A	ENST00000215855.2	+	5	476	c.396G>A	c.(394-396)gtG>gtA	p.V132V	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	132	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TGGAGATAGTGGATGATGACG	0.582000													18	37					0	0	0.006122	0	0
TFRC	7037	broad.mit.edu	37	3	195782076	195782076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:195782076C>T	ENST00000360110.4	-	17	1943	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	TFRC_ENST00000392396.3_Missense_Mutation_p.E592K|TFRC_ENST00000535031.1_Missense_Mutation_p.E310K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.E511K	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	592	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAGCGACCTCTGCAGCTGCT	0.458000			T	BCL6	NHL								45	200					0	0	0.002522	0	0
COL12A1	1303	broad.mit.edu	37	6	75843070	75843070	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:75843070C>A	ENST00000322507.8	-	34	6042	c.5733G>T	c.(5731-5733)gtG>gtT	p.V1911V	COL12A1_ENST00000416123.2_Silent_p.V1911V|COL12A1_ENST00000483888.2_Silent_p.V1911V|COL12A1_ENST00000345356.6_Silent_p.V747V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1911	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAACTACAGTCACAGTGTATG	0.378000													13	44					2.31682e-05	3.3903e-05	0.003163	1	0
CLMN	79789	broad.mit.edu	37	14	95670290	95670290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:95670290C>G	ENST00000298912.4	-	9	1509	c.1396G>C	c.(1396-1398)Gtt>Ctt	p.V466L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	466						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCAACCTCAACTGCCAAGACA	0.488000													13	74					0	0	0.002450	0	0
RGS9	8787	broad.mit.edu	37	17	63133680	63133680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:63133680C>A	ENST00000449996.3	+	1	94	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	RGS9_ENST00000262406.9_Missense_Mutation_p.Q8K|RGS9_ENST00000443584.3_Missense_Mutation_p.Q8K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	8					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACACCAAGGCCAGCAGTACAG	0.617000													18	43					4.63292e-17	8.55449e-17	0.001216	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105950303	105950303	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:105950303C>G	ENST00000278618.4	+	2	515	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	98					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCAAAGGACTCATCGAATCCT	0.388000													14	42					0	0	0.003163	0	0
MDGA2	161357	broad.mit.edu	37	14	47504488	47504488	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:47504488A>T	ENST00000426342.1	-	8	1397	c.651T>A	c.(649-651)gtT>gtA	p.V217V	MDGA2_ENST00000399232.2_Silent_p.V515V|MDGA2_ENST00000357362.3_Silent_p.V217V|MDGA2_ENST00000439988.2_Silent_p.V446V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	446	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCCTGTGGAACAGTCAGAT	0.373000													41	56					0	0	0.002522	0	0
KIAA0895	23366	broad.mit.edu	37	7	36397151	36397151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:36397151T>C	ENST00000317020.6	-	2	374	c.74A>G	c.(73-75)aAt>aGt	p.N25S	KIAA0895_ENST00000415803.2_Missense_Mutation_p.N63S|KIAA0895_ENST00000297063.6_Missense_Mutation_p.N76S|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000338533.5_Missense_Mutation_p.N63S|KIAA0895_ENST00000440378.1_Missense_Mutation_p.N25S|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000453212.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	76	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTTCTGCATTTAGAATAGA	0.343000													9	23					0	0	0.004482	0	0
INPP4A	3631	broad.mit.edu	37	2	99155434	99155434	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:99155434G>A	ENST00000074304.5	+	9	1053	c.660G>A	c.(658-660)ttG>ttA	p.L220L	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.L220L|INPP4A_ENST00000523221.1_Silent_p.L220L|INPP4A_ENST00000409540.3_Silent_p.L220L|INPP4A_ENST00000409016.3_Silent_p.L220L|INPP4A_ENST00000545415.1_Silent_p.L220L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGGACACTTTGCTGAAATCGG	0.488000													7	9					0	0	0.001984	0	0
OR51B5	282763	broad.mit.edu	37	11	5364185	5364185	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:5364185G>T	ENST00000300773.2	-	1	624	c.570C>A	c.(568-570)acC>acA	p.T190T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAGGTGGTATCAGCAC	0.428000													48	71					2.59344e-38	5.23151e-38	0.003610	1	0
VIPR2	7434	broad.mit.edu	37	7	158835786	158835786	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:158835786C>A	ENST00000262178.2	-	6	722	c.537G>T	c.(535-537)aaG>aaT	p.K179N	VIPR2_ENST00000377633.3_Missense_Mutation_p.K163N|VIPR2_ENST00000402066.1_Missense_Mutation_p.K320N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	179					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GAACGTCGTCCTTGACCAGCA	0.587000													13	40					0.000151284	0.000217312	0.001855	1	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000													3	122					0	0	0.000248	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048102	58048102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:58048102G>A	ENST00000556826.1	-	4	873	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	SLC35F4_ENST00000339762.6_Missense_Mutation_p.L249F|SLC35F4_ENST00000554729.1_Missense_Mutation_p.L90F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTTTAAGAAAGAGTTTC	0.413000													6	30					0	0	0.001984	0	0
BCL11B	64919	broad.mit.edu	37	14	99641175	99641175	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:99641175G>A	ENST00000345514.2	-	3	2051	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	BCL11B_ENST00000443726.2_Silent_p.P472P|BCL11B_ENST00000357195.3_Silent_p.P666P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	666	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAAGAGCCCGGGGAAGGGCT	0.796000			T	TLX3	T-ALL								3	11					0	0	0.004672	0	0
POPDC3	64208	broad.mit.edu	37	6	105609578	105609578	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:105609578C>G	ENST00000254765.3	-	2	485	c.207G>C	c.(205-207)tgG>tgC	p.W69C	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	69						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACATCTACCCAAGCCCAGA	0.428000													33	118					0	0	0.001786	0	0
THSD7A	221981	broad.mit.edu	37	7	11486919	11486919	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:11486919G>T	ENST00000423059.3	-	12	2989	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	913	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAAAACTTGGACCAGCTGGT	0.522000										HNSCC(18;0.044)			12	27					7.03913e-09	1.13644e-08	0.001368	1	0
CNTN1	1272	broad.mit.edu	37	12	41418967	41418967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:41418967G>A	ENST00000551295.2	+	21	2656	c.2539G>A	c.(2539-2541)Gcc>Acc	p.A847T	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.A836T|CNTN1_ENST00000347616.1_Missense_Mutation_p.A847T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	847	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTATTGGGCTGCCCATGACAA	0.433000													37	174					0	0	0.004289	0	0
POTEM	641455	broad.mit.edu	37	14	20020006	20020006	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:20020006C>A	ENST00000551509.1	-	1	266	c.215G>T	c.(214-216)tGc>tTc	p.C72F		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	72										endometrium(4)|kidney(1)|lung(4)	9						GCTCCCCCTGCACCAGGGGAA	0.587000													72	942					3.00063e-23	5.83939e-23	0.003610	1	0
RP1	6101	broad.mit.edu	37	8	55538431	55538431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:55538431G>T	ENST00000220676.1	+	4	2137	c.1989G>T	c.(1987-1989)aaG>aaT	p.K663N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	663			K -> N (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGAAAAGAAGATTTTGTCAT	0.363000													8	33					1.06961e-07	1.68338e-07	0.003080	1	0
BECN1	8678	broad.mit.edu	37	17	40970594	40970594	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:40970594G>C	ENST00000361523.4	-	6	588	c.456C>G	c.(454-456)ctC>ctG	p.L152L	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.L152L	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	152					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGTGACGTTGAGCTGAGTGT	0.512000													14	57					0	0	0.001855	0	0
TG	7038	broad.mit.edu	37	8	134107379	134107379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:134107379T>C	ENST00000220616.4	+	42	7371	c.7331T>C	c.(7330-7332)aTg>aCg	p.M2444T	SLA_ENST00000338087.5_Intron|TG_ENST00000377869.1_Missense_Mutation_p.M2387T|TG_ENST00000542445.1_Missense_Mutation_p.M814T|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.M577T|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2444					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTTGCCCCATGTCATCCAGC	0.587000													124	110					0	0	0.003610	0	0
SNAPC4	6621	broad.mit.edu	37	9	139290116	139290116	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:139290116T>A	ENST00000298532.2	-	3	652	c.284A>T	c.(283-285)gAg>gTg	p.E95V		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	95	SNAPC5-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGATGACCTCCTGGTAGAC	0.632000													88	152					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179490067	179490067	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179490067T>C	ENST00000589042.1	-	241	44705	c.44481A>G	c.(44479-44481)ttA>ttG	p.L14827L	TTN_ENST00000591111.1_Silent_p.L13186L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.L5887L|TTN_ENST00000460472.2_Silent_p.L5762L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L12259L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.L5954L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13186	Fibronectin type-III 7.						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)			CAGCATCTTCTAACTTTACAT	0.353000													119	90					0	0	0.003610	0	0
AKAP9	10142	broad.mit.edu	37	7	91631454	91631454	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:91631454T>G	ENST00000359028.2	+	9	2484	c.2259T>G	c.(2257-2259)ctT>ctG	p.L753L	AKAP9_ENST00000358100.2_Silent_p.L753L|AKAP9_ENST00000356239.3_Silent_p.L741L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	753	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGTACACTTGAACAAGAAG	0.294000			T	BRAF	papillary thyroid								10	53					0	0	0.006214	0	0
TNIK	23043	broad.mit.edu	37	3	170789099	170789099	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:170789099C>T	ENST00000436636.2	-	29	3806	c.3462G>A	c.(3460-3462)agG>agA	p.R1154R	TNIK_ENST00000488470.1_Silent_p.R1099R|TNIK_ENST00000341852.6_Silent_p.R1070R|TNIK_ENST00000538048.1_Silent_p.R1106R|TNIK_ENST00000284483.8_Silent_p.R1146R|TNIK_ENST00000475336.1_Silent_p.R1062R|TNIK_ENST00000460047.1_Silent_p.R1091R|TNIK_ENST00000369326.5_Silent_p.R1132R|TNIK_ENST00000470834.1_Silent_p.R1117R|TNIK_ENST00000357327.5_Silent_p.R1125R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1154	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAAATTTGATCCTTTCATATT	0.294000													11	17					0	0	0.000673	0	0
ANGEL1	23357	broad.mit.edu	37	14	77274328	77274328	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:77274328G>A	ENST00000251089.2	-	3	925	c.813C>T	c.(811-813)gaC>gaT	p.D271D		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	271										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AATTGAGGATGTCTGGATGGC	0.498000													6	54					0	0	0.004482	0	0
STRADA	92335	broad.mit.edu	37	17	61781806	61781806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:61781806G>A	ENST00000392950.4	-	9	1157	c.884C>T	c.(883-885)cCc>cTc	p.P295L	STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.P288L|STRADA_ENST00000582137.1_Missense_Mutation_p.P303L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.P274L|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.P332L	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	332	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GGAGGGCCGGGGGGTGCTGGT	0.642000													23	22					0	0	0.001882	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973976	69973976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:69973976G>A	ENST00000305231.7	+	5	1292	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	416					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTTAGAGTGGACTTCAACAC	0.433000													38	163					0	0	0.001951	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203779	23203779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:23203779C>A	ENST00000300061.2	+	4	868	c.725C>A	c.(724-726)cCt>cAt	p.P242H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	242					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCACAGGTGCCTCTGGAGAAG	0.498000													19	61					7.07596e-05	0.000102427	0.006122	1	0
ADNP	23394	broad.mit.edu	37	20	49508160	49508160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:49508160T>A	ENST00000396029.3	-	5	3658	c.3091A>T	c.(3091-3093)Agt>Tgt	p.S1031C	ADNP_ENST00000371602.4_Missense_Mutation_p.S1031C|ADNP_ENST00000349014.3_Missense_Mutation_p.S1031C|ADNP_ENST00000396032.3_Missense_Mutation_p.S1031C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1031						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCATAGGAACTATTCTTCCAT	0.458000													31	120					0	0	0.001512	0	0
OR52A1	23538	broad.mit.edu	37	11	5172865	5172865	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:5172865A>G	ENST00000380367.1	-	2	1152	c.735T>C	c.(733-735)atT>atC	p.I245I	OR52A1_ENST00000328942.1_Silent_p.I245I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	245					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGAGCAATGCAGGTAT	0.428000													13	43					0	0	0.001855	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357536	67357536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr8:67357536G>A	ENST00000396623.3	+	6	468	c.437G>A	c.(436-438)tGt>tAt	p.C146Y	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.C98Y|ADHFE1_ENST00000379385.4_Missense_Mutation_p.C146Y	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	146					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATGGACACCTGTAAGGCTGCT	0.478000													35	116					0	0	0.002445	0	0
ITK	3702	broad.mit.edu	37	5	156671418	156671418	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:156671418T>A	ENST00000422843.3	+	13	1531	c.1379T>A	c.(1378-1380)cTg>cAg	p.L460Q	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	460	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGACCCTGCTGGGCATGTGT	0.572000			T	SYK	peripheral T-cell lymphoma								17	25					0	0	0.004007	0	0
VEPH1	79674	broad.mit.edu	37	3	157082158	157082158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:157082158C>A	ENST00000362010.2	-	8	1578	c.1271G>T	c.(1270-1272)gGc>gTc	p.G424V	VEPH1_ENST00000392832.2_Missense_Mutation_p.G424V|VEPH1_ENST00000543418.1_Missense_Mutation_p.G424V|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.G424V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	424						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGATAGAGCCAGGGGTATT	0.348000													22	106					7.45023e-12	1.2706e-11	0.001523	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530349	80530349	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:80530349C>A	ENST00000295057.3	-	2	1252	c.596G>T	c.(595-597)aGt>aTt	p.S199I	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S199I|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	199						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGCCAGACTCTTGAGCTG	0.582000										HNSCC(69;0.2)			33	88					3.90053e-15	7.09049e-15	0.002445	1	0
KCNH8	131096	broad.mit.edu	37	3	19554594	19554594	+	Missense_Mutation	SNP	C	C	T	rs138619397		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:19554594C>T	ENST00000328405.2	+	13	2478	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	738						integral to membrane	two-component sensor activity	p.R738G(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						ATCTTCTTCGCGCAACAAGAA	0.552000													15	48					0	0	0.004990	0	0
ACVRL1	94	broad.mit.edu	37	12	52312877	52312877	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:52312877C>A	ENST00000550683.1	+	8	1498	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	ACVRL1_ENST00000419526.2_Missense_Mutation_p.P278H|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P452H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	452	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCACCATCCCTAACCGGCTG	0.587000													19	62					1.56452e-12	2.72268e-12	0.007413	1	0
NSD1	64324	broad.mit.edu	37	5	176675284	176675284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:176675284G>T	ENST00000439151.2	+	11	4645	c.4600G>T	c.(4600-4602)Gaa>Taa	p.E1534*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1431*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1534					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATGCAGGGTGAACGCGGTGG	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			15	5					3.27435e-08	5.2145e-08	0.002450	1	0
HEATR3	55027	broad.mit.edu	37	16	50118116	50118116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr16:50118116A>G	ENST00000299192.7	+	9	1395	c.1204A>G	c.(1204-1206)Agt>Ggt	p.S402G	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S316G	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	402							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAATTCCTTCAGTGAGTGCGG	0.502000													15	81					0	0	0.002450	0	0
PSME4	23198	broad.mit.edu	37	2	54137242	54137242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:54137242C>A	ENST00000404125.1	-	21	2597	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	848					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACTTTGTCTCTTCCAAGGAC	0.333000													91	105					1.09269e-41	2.21849e-41	0.003610	1	0
TRPV5	56302	broad.mit.edu	37	7	142625329	142625329	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:142625329T>C	ENST00000265310.1	-	7	1111	c.762_splice	c.e7-1	p.M255_splice	TRPV5_ENST00000442623.1_Splice_Site_p.M255_splice	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	255					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			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)					TGCTGGAACATCTGAGAGACC	0.567000													13	93					0	0	0.003163	0	0
ADAM12	8038	broad.mit.edu	37	10	127738229	127738229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr10:127738229G>C	ENST00000368679.4	-	15	1937	c.1628C>G	c.(1627-1629)cCt>cGt	p.P543R	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.P543R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	543	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGGGGCAGGTTTAGCACC	0.473000													32	36					0	0	0.002096	0	0
PTPRJ	5795	broad.mit.edu	37	11	48168496	48168496	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:48168496A>G	ENST00000418331.2	+	15	3332	c.2980A>G	c.(2980-2982)Atc>Gtc	p.I994V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	994					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAGGCTTCATCTTCTGGAG	0.398000													96	115					0	0	0.003610	0	0
CLUH	23277	broad.mit.edu	37	17	2604689	2604689	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:2604689G>A	ENST00000570628.1	-	6	861	c.756C>T	c.(754-756)acC>acT	p.T252T	CLUH_ENST00000575014.1_Silent_p.T184T|CLUH_ENST00000435359.1_Silent_p.T252T|CLUH_ENST00000538975.1_Silent_p.T252T					clustered mitochondria (cluA/CLU1) homolog																		GTGTGGACGCGGTGATGCTGA	0.652000													10	2					0	0	0.006214	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709079	38709079	+	RNA	SNP	C	C	T	rs111340107		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537000													8	46					0	0	0.006214	0	0
ZNF670	93474	broad.mit.edu	37	1	247200823	247200823	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:247200823T>A	ENST00000366503.2	-	4	1256	c.1098A>T	c.(1096-1098)gaA>gaT	p.E366D		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTCTTACATTCATAGGGTT	0.403000													28	68					0	0	0.007291	0	0
EMR2	30817	broad.mit.edu	37	19	14862462	14862462	+	Missense_Mutation	SNP	C	C	G	rs143659792	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:14862462C>G	ENST00000315576.3	-	16	2261	c.1810G>C	c.(1810-1812)Ggt>Cgt	p.G604R	EMR2_ENST00000596991.2_Missense_Mutation_p.G593R|EMR2_ENST00000595839.1_Missense_Mutation_p.G462R|EMR2_ENST00000594076.1_Missense_Mutation_p.G511R|EMR2_ENST00000594294.1_Missense_Mutation_p.G555R|EMR2_ENST00000392965.3_Missense_Mutation_p.G546R|EMR2_ENST00000353876.1_Missense_Mutation_p.G511R|EMR2_ENST00000353005.1_Missense_Mutation_p.G462R|EMR2_ENST00000601345.1_Missense_Mutation_p.G593R|EMR2_ENST00000392967.2_Missense_Mutation_p.G593R|EMR2_ENST00000346057.1_Missense_Mutation_p.G555R|EMR2_ENST00000392964.3_3'UTR	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	604					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCAAGGTACCGGCGATGATG	0.567000													25	43					0	0	0.003330	0	0
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:100677500C>A	ENST00000306151.4	+	3	2867	c.2803C>A	c.(2803-2805)Ccg>Acg	p.P935T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517000													130	553					1.03418e-33	2.07278e-33	0.003610	1	0
DCHS2	54798	broad.mit.edu	37	4	155219268	155219268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:155219268G>T	ENST00000357232.3	-	18	4832	c.4833C>A	c.(4831-4833)gaC>gaA	p.D1611E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1611	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TGGGCCCCAAGTCCAGGTCAT	0.418000													36	30					1.07637e-12	1.87664e-12	0.004878	1	0
SNORD113-4	767564	broad.mit.edu	37	14	101402830	101402830	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:101402830G>A	ENST00000364802.1	+	0	3					NR_003232.1																						AACGTGCTTGGACCAATGATG	0.323000													24	63					0	0	0.003330	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873273	173873273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:173873273C>G	ENST00000506823.1	+	10	1892	c.1235C>G	c.(1234-1236)aCg>aGg	p.T412R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.T395R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	412						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCTCTCCACGGGGGACATC	0.557000													14	65					0	0	0.001855	0	0
CNDP1	84735	broad.mit.edu	37	18	72245483	72245483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr18:72245483C>T	ENST00000582365.1	+	8	1025	c.959C>T	c.(958-960)aCa>aTa	p.T320I	CNDP1_ENST00000358821.3_Missense_Mutation_p.T363I			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	363					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAACTAAAACAGTCATACCT	0.423000													22	21					0	0	0.001882	0	0
ZNF625	90589	broad.mit.edu	37	19	12256755	12256755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:12256755C>A	ENST00000355738.1	-	4	627	c.278G>T	c.(277-279)gGg>gTg	p.G93V	ZNF625_ENST00000542938.1_Missense_Mutation_p.G93V|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159V|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGGTTTCCCCCCAGTGTGAGC	0.428000													28	97					1.16021e-09	1.90258e-09	0.007291	1	0
NCOR1	9611	broad.mit.edu	37	17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:16068406G>C	ENST00000268712.3	-	5	762	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q60E|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q169E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	169	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393000													3	98					0	0	0.001984	0	0
ING5	84289	broad.mit.edu	37	2	242648716	242648716	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:242648716G>T	ENST00000313552.6	+	3	221	c.195G>T	c.(193-195)ctG>ctT	p.L65L	ING5_ENST00000406941.1_Silent_p.L65L|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	65					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGAGCGCCTGCAGAAGATCC	0.567000													58	206					4.1673e-28	8.24669e-28	0.003610	1	0
ELAC2	60528	broad.mit.edu	37	17	12916588	12916588	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:12916588C>A	ENST00000338034.4	-	6	734	c.495G>T	c.(493-495)gtG>gtT	p.V165V	ELAC2_ENST00000426905.3_Silent_p.V165V|ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000395962.2_Silent_p.V146V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	165				V -> M (in Ref. 2; AK001392).	tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGTGGGGCCGCACAGCTACAA	0.493000													9	15					3.09899e-07	4.82865e-07	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179442239	179442239	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:179442239T>C	ENST00000589042.1	-	324	69049		c.e324-2		TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TTGGTGCCTCTGCAAAGAAAA	0.343000													13	34					0	0	0.004990	0	0
UBXN7	26043	broad.mit.edu	37	3	196096339	196096339	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:196096339T>C	ENST00000296328.4	-	7	733	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	UBXN7_ENST00000535858.1_Missense_Mutation_p.Y72C|UBXN7_ENST00000428095.1_Missense_Mutation_p.Y58C	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	220							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCTAACTTATAAAACTGTAT	0.353000													15	65					0	0	0.007413	0	0
RAB41	347517	broad.mit.edu	37	X	69502178	69502178	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:69502178G>T	ENST00000374473.2	+	1	157	c.111G>T	c.(109-111)ctG>ctT	p.L37L	RAB41_ENST00000276066.4_Silent_p.L37L			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						TCTTATTCCTGGGAGAGCAGA	0.557000													13	9					9.05144e-12	1.54088e-11	0.001855	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745762	77745762	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:77745762A>T	ENST00000409088.3	-	3	1647	c.1233T>A	c.(1231-1233)ccT>ccA	p.P411P	LRRTM4_ENST00000409093.1_Silent_p.P411P|LRRTM4_ENST00000409282.1_Silent_p.P412P|LRRTM4_ENST00000409911.1_Silent_p.P412P|LRRTM4_ENST00000409884.1_Silent_p.P411P	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	411						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTCTGCGCCAGGAATCTGAA	0.483000													12	62					0	0	0.001368	0	0
BCL9L	283149	broad.mit.edu	37	11	118772310	118772310	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:118772310C>A	ENST00000334801.3	-	6	3106	c.2142G>T	c.(2140-2142)gcG>gcT	p.A714A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	714	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTGTCGGTGCGCCTGCATCA	0.662000													20	54					5.35267e-07	8.31258e-07	0.007413	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55377864	55377864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:55377864C>A	ENST00000326321.3	+	8	1178	c.1145C>A	c.(1144-1146)aCa>aAa	p.T382K	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.T365K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.T382K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	382					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			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)		GGGGACAGAACAGTGAATAGG	0.532000													25	123					1.85244e-09	3.03244e-09	0.003330	1	0
TMEM154	201799	broad.mit.edu	37	4	153565566	153565566	+	Splice_Site	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:153565566C>T	ENST00000304385.3	-	4	624		c.e4+1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGAAAACTTACACTTTCACGT	0.413000													9	23					0	0	0.000673	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722462	150722462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:150722462C>T	ENST00000335244.4	-	4	556	c.427G>A	c.(427-429)Gct>Act	p.A143T	SLC36A2_ENST00000521967.1_Missense_Mutation_p.A143T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	143					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGTGAGCGTGATTCTGG	0.537000													23	26					0	0	0.004656	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566132	155566132	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr2:155566132G>A	ENST00000295101.2	+	2	1197	c.720G>A	c.(718-720)gaG>gaA	p.E240E	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	240					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGACACCTGAGGGTGAGTTCC	0.448000													25	70					0	0	0.004656	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855540	183855540	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:183855540G>A	ENST00000273783.3	+	3	575	c.453G>A	c.(451-453)gtG>gtA	p.V151V	EIF2B5_ENST00000444495.1_Silent_p.V151V|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	151					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCTTCTGGTGTATGGGGATG	0.473000													53	95					0	0	0.003610	0	0
RAB11B	9230	broad.mit.edu	37	19	8464858	8464858	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr19:8464858G>T	ENST00000328024.6	+	2	370	c.152G>T	c.(151-153)cGc>cTc	p.R51L	RAB11B_ENST00000594216.1_Missense_Mutation_p.R51L|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	51					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TTCGCCACCCGCAGCATCCAG	0.662000													16	42					1.5739e-10	2.64099e-10	0.004007	1	0
IBTK	25998	broad.mit.edu	37	6	82911176	82911176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:82911176C>G	ENST00000306270.7	-	19	3302	c.2753G>C	c.(2752-2754)gGt>gCt	p.G918A	IBTK_ENST00000510291.1_Missense_Mutation_p.G918A|IBTK_ENST00000503631.1_Missense_Mutation_p.G717A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	918					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAACACCATCGCTTAA	0.318000													11	13					0	0	0.000978	0	0
HVCN1	84329	broad.mit.edu	37	12	111089187	111089187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr12:111089187C>G	ENST00000356742.5	-	5	1231	c.478G>C	c.(478-480)Gtc>Ctc	p.V160L	HVCN1_ENST00000439744.2_Missense_Mutation_p.V140L|HVCN1_ENST00000548312.1_Missense_Mutation_p.V160L|HVCN1_ENST00000242607.8_Missense_Mutation_p.V160L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	160					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGGCGGAAGACAAATAATTTA	0.468000													32	54					0	0	0.002836	0	0
TM9SF2	9375	broad.mit.edu	37	13	100193874	100193874	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr13:100193874C>A	ENST00000376387.4	+	9	1160	c.970C>A	c.(970-972)Cgg>Agg	p.R324R		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	324					transport	endosome membrane|integral to plasma membrane		p.R324G(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358000													24	45					1.1804e-14	2.1211e-14	0.003954	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914815	94914815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:94914815G>T	ENST00000334708.3	-	2	361	c.297C>A	c.(295-297)atC>atA	p.I99I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	99					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622000													24	142					2.89027e-11	4.88481e-11	0.002299	1	0
LAMA4	3910	broad.mit.edu	37	6	112486448	112486448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:112486448C>T	ENST00000230538.7	-	13	1979	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E521K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E521K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E521K|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	528	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCACCACTTCCATTTGTTCC	0.453000													19	64					0	0	0.001216	0	0
IPO7	10527	broad.mit.edu	37	11	9466672	9466672	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:9466672A>C	ENST00000379719.3	+	25	3190	c.3048A>C	c.(3046-3048)ggA>ggC	p.G1016G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1016					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCATGGAGGATACAAATTCA	0.378000													15	46					0	0	0.004007	0	0
NPAP1	23742	broad.mit.edu	37	15	24922500	24922500	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr15:24922500G>T	ENST00000329468.2	+	1	1960	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTCACTTCTGACCCCCCAAC	0.522000													43	191					9.73076e-26	1.90552e-25	0.006999	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445495	10445495	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr4:10445495C>A	ENST00000326756.3	-	3	2896	c.2458G>T	c.(2458-2460)Gac>Tac	p.D820Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTCTGAGTCCGCCTGTCTC	0.468000													21	58					2.21704e-12	3.8298e-12	0.002780	1	0
SEPN1	57190	broad.mit.edu	37	1	26138256	26138256	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:26138256C>T	ENST00000361547.2	+	9	1222	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	SEPN1_ENST00000374315.1_Silent_p.H355H|SEPN1_ENST00000354177.4_Silent_p.H355H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	389						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACAGCCACCTGCCTTCAG	0.647000													4	17					0	0	0.000248	0	0
SH2D5	400745	broad.mit.edu	37	1	21054083	21054083	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:21054083A>T	ENST00000444387.2	-	3	498	c.101T>A	c.(100-102)tTc>tAc	p.F34Y	SH2D5_ENST00000460804.1_Intron|SH2D5_ENST00000375031.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	269										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCCACAGGGAAGGAGCCCAC	0.637000													13	5					0	0	0.003163	0	0
LRP5	4041	broad.mit.edu	37	11	68177399	68177399	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:68177399C>T	ENST00000294304.7	+	10	2215	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	703	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGCGCCTTCATGAACGGGA	0.547000													24	59					0	0	0.003954	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493624	62493624	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:62493624A>T	ENST00000369916.3	+	1	1059	c.731A>T	c.(730-732)tAc>tTc	p.Y244F		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	244							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CTGGTGGTCTACGGCTGGTCT	0.677000													9	26					0	0	0.004482	0	0
SOS2	6655	broad.mit.edu	37	14	50596694	50596694	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:50596694G>C	ENST00000216373.5	-	21	3638	c.3364C>G	c.(3364-3366)Ctt>Gtt	p.L1122V	SOS2_ENST00000543680.1_Missense_Mutation_p.L1089V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1122					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTGGCAAAAGCACTGGAGCA	0.274000													6	33					0	0	0.003080	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558615	140558615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:140558615G>A	ENST00000239444.2	+	1	1245	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V334I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCACCGTTCTGATTCA	0.433000													38	352					0	0	0.004878	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			22	14					0	0	0.001523	0	0
DHRS2	10202	broad.mit.edu	37	14	24108190	24108190	+	Silent	SNP	C	C	A	rs146713514	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:24108190C>A	ENST00000250383.6	+	2	593	c.117C>A	c.(115-117)gcC>gcA	p.A39A	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.A39A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	17					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACCGGGTAGCCGTGGTCACGG	0.612000													50	84					4.25531e-23	8.22987e-23	0.003610	1	0
CR2	1380	broad.mit.edu	37	1	207648236	207648236	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr1:207648236T>A	ENST00000367057.3	+	14	2580	c.2391T>A	c.(2389-2391)ttT>ttA	p.F797L	CR2_ENST00000458541.2_Missense_Mutation_p.F711L|CR2_ENST00000367059.3_Missense_Mutation_p.F738L|CR2_ENST00000367058.3_Missense_Mutation_p.F738L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	870	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAACTTTCTATATGGAA	0.418000													24	83					0	0	0.002299	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562532	28562532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:28562532delG	ENST00000383768.2	+	9	1022	c.834delG	c.(832-834)cafs	p.Q279fs	ZCWPW2_ENST00000421010.1_Frame_Shift_Del_p.Q279fs			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	279							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAATGCTGCAGCAAGCACTGC	0.373													16	19	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													3	6	---	---	---	---					
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980399	158980399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:158980399delC	ENST00000485419.1	+	4	387	c.218delC	c.(217-219)tcfs	p.S73fs	IQCJ_ENST00000397832.2_Frame_Shift_Del_p.S73fs|IQCJ_ENST00000482126.1_Frame_Shift_Del_p.S46fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Del_p.S46fs|IQCJ_ENST00000451172.1_Frame_Shift_Del_p.S73fs|IQCJ_ENST00000481796.1_3'UTR	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGGAGCCCGTCCCCACCCTCT	0.522													118	113	---	---	---	---					
NUP155	9631	broad.mit.edu	37	5	37331833	37331833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:37331833delA	ENST00000231498.3	-	14	1786	c.1583delT	c.(1582-1584)ggfs	p.V528fs	NUP155_ENST00000381843.2_Frame_Shift_Del_p.V469fs|NUP155_ENST00000513532.1_Frame_Shift_Del_p.V528fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	528					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTCCTCCCACATTACTCAC	0.328													31	96	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161115970	161115971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161115970_161115971insT	ENST00000274545.5	+	4	674_675	c.241_242insT	c.(241-243)tttfs	p.F81fs	GABRA6_ENST00000523217.1_Intron|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	81					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V81F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACGATGGATGTTTTTTTCCGC	0.401										TCGA Ovarian(5;0.080)			19	44	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													3	5	---	---	---	---					
CRISP3	10321	broad.mit.edu	37	6	49698934	49698935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:49698934_49698935insG	ENST00000433368.2	-	7	689_690	c.620_621insC	c.(619-621)ctafs	p.L207fs	CRISP3_ENST00000393666.1_Frame_Shift_Ins_p.L184fs|CRISP3_ENST00000371159.4_Frame_Shift_Ins_p.L215fs|CRISP3_ENST00000423399.2_Frame_Shift_Ins_p.L94fs|CRISP3_ENST00000263045.4_Frame_Shift_Ins_p.L197fs	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	184					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTTCATAAGGGACATATAG	0.322													8	75	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:21974763delG	ENST00000304494.5	-	1	334	c.64delC	c.(64-66)ggfs	p.R22fs	CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	22					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCGACCCCGGGCCGCGGCC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			25	30	---	---	---	---					
ENTPD8	377841	broad.mit.edu	37	9	140329398	140329407	+	Frame_Shift_Del	DEL	CAGCCCCCAC	CAGCCCCCAC	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140329398_140329407delCAGCCCCCAC	ENST00000371506.2	-	10	1630_1639	c.1447_1456delGTGGGGGCTG	c.(1447-1458)ccfs	p.VGAA483fs	ENTPD8_ENST00000472938.1_Frame_Shift_Del_p.VGAA483fs|ENTPD8_ENST00000344119.2_Frame_Shift_Del_p.VGAA446fs	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	483						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGACCAAGGCAGCCCCCACCACCGCCACC	0.681													11	26	---	---	---	---					
SMTNL1	219537	broad.mit.edu	37	11	57313764	57313764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:57313764delG	ENST00000457912.1	+	6	1186	c.1186delG	c.(1186-1188)gtfs	p.G397fs	SMTNL1_ENST00000399154.2_Frame_Shift_Del_p.G342fs|SMTNL1_ENST00000527972.1_Frame_Shift_Del_p.G379fs			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	379										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAGCCATTGGTGGTGTCAA	0.637													8	10	---	---	---	---					
CENPJ	55835	broad.mit.edu	37	13	25479525	25479525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:25479525delC	ENST00000381884.4	-	7	2836	c.2651delG	c.(2650-2652)gafs	p.G884fs	CENPJ_ENST00000545981.1_Frame_Shift_Del_p.G884fs	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	884					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAGTTCATTTCCCAAGTGTGA	0.373													18	48	---	---	---	---					
TRDV1	28518	broad.mit.edu	37	14	22564818	22564819	+	RNA	DEL	CA	CA	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:22564818_22564819delCA	ENST00000390452.2	+	0	287_288																											TTCAAGAAAGCAGCGAAATCCG	0.421													18	51	---	---	---	---					
INSM1	3642	broad.mit.edu	37	20	20350324	20350325	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:20350324_20350325insA	ENST00000310227.1	+	1	1560_1561	c.1413_1414insA	c.(1411-1416)tgagtafs	p.V472fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	472					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGTTCCCCTGCAAGTACTGCCC	0.658													10	51	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													7	0	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99551615	99551615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551615delT	ENST00000373034.4	-	6	4782	c.3107delA	c.(3106-3108)agfs	p.K1036fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.K989fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.K988fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1036					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACAGTCCTCTTGCCTTTCAG	0.597													28	40	---	---	---	---					
ZCWPW2	152098	broad.mit.edu	37	3	28562532	28562532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:28562532delG	ENST00000383768.2	+	9	1022	c.834delG	c.(832-834)cafs	p.Q279fs	ZCWPW2_ENST00000421010.1_Frame_Shift_Del_p.Q279fs			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	279							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAATGCTGCAGCAAGCACTGC	0.373													16	19	---	---	---	---					
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980399	158980399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr3:158980399delC	ENST00000485419.1	+	4	387	c.218delC	c.(217-219)tcfs	p.S73fs	IQCJ_ENST00000482126.1_Frame_Shift_Del_p.S46fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Del_p.S73fs|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Del_p.S46fs|IQCJ_ENST00000451172.1_Frame_Shift_Del_p.S73fs	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGGAGCCCGTCCCCACCCTCT	0.522													118	113	---	---	---	---					
NUP155	9631	broad.mit.edu	37	5	37331833	37331833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:37331833delA	ENST00000231498.3	-	14	1786	c.1583delT	c.(1582-1584)ggfs	p.V528fs	NUP155_ENST00000513532.1_Frame_Shift_Del_p.V528fs|NUP155_ENST00000381843.2_Frame_Shift_Del_p.V469fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	528					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTCCTCCCACATTACTCAC	0.328													31	96	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161115970	161115971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr5:161115970_161115971insT	ENST00000274545.5	+	4	674_675	c.241_242insT	c.(241-243)tttfs	p.F81fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron|GABRA6_ENST00000522269.1_3'UTR			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	81					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V81F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACGATGGATGTTTTTTTCCGC	0.401										TCGA Ovarian(5;0.080)			19	44	---	---	---	---					
CRISP3	10321	broad.mit.edu	37	6	49698934	49698935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr6:49698934_49698935insG	ENST00000433368.2	-	7	689_690	c.620_621insC	c.(619-621)ctafs	p.L207fs	CRISP3_ENST00000371159.4_Frame_Shift_Ins_p.L215fs|CRISP3_ENST00000263045.4_Frame_Shift_Ins_p.L197fs|CRISP3_ENST00000393666.1_Frame_Shift_Ins_p.L184fs|CRISP3_ENST00000423399.2_Frame_Shift_Ins_p.L94fs	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	184					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTTCATAAGGGACATATAG	0.322													8	75	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													3	5	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:21974763delG	ENST00000304494.5	-	1	334	c.64delC	c.(64-66)ggfs	p.R22fs	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R22fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	22					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCGACCCCGGGCCGCGGCC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			25	30	---	---	---	---					
AKAP2	11217	broad.mit.edu	37	9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-	rs72207945		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)del	p.PPESPG19del	PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001004065.4	NP_001004065.2			A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789													3	5	---	---	---	---					
ENTPD8	377841	broad.mit.edu	37	9	140329398	140329407	+	Frame_Shift_Del	DEL	CAGCCCCCAC	CAGCCCCCAC	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr9:140329398_140329407delCAGCCCCCAC	ENST00000371506.2	-	10	1630_1639	c.1447_1456delGTGGGGGCTG	c.(1447-1458)ccfs	p.VGAA483fs	ENTPD8_ENST00000344119.2_Frame_Shift_Del_p.VGAA446fs|ENTPD8_ENST00000472938.1_Frame_Shift_Del_p.VGAA483fs	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	483						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGACCAAGGCAGCCCCCACCACCGCCACC	0.681													11	26	---	---	---	---					
SMTNL1	219537	broad.mit.edu	37	11	57313764	57313764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr11:57313764delG	ENST00000457912.1	+	6	1186	c.1186delG	c.(1186-1188)gtfs	p.G397fs	SMTNL1_ENST00000399154.2_Frame_Shift_Del_p.G342fs|SMTNL1_ENST00000527972.1_Frame_Shift_Del_p.G379fs			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	379										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAGCCATTGGTGGTGTCAA	0.637													8	10	---	---	---	---					
CENPJ	55835	broad.mit.edu	37	13	25479525	25479525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr13:25479525delC	ENST00000381884.4	-	7	2836	c.2651delG	c.(2650-2652)gafs	p.G884fs	CENPJ_ENST00000545981.1_Frame_Shift_Del_p.G884fs	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	884					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAGTTCATTTCCCAAGTGTGA	0.373													18	48	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													7	294	---	---	---	---					
TRDV1	28518	broad.mit.edu	37	14	22564818	22564819	+	RNA	DEL	CA	CA	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr14:22564818_22564819delCA	ENST00000390452.2	+	0	287_288																											TTCAAGAAAGCAGCGAAATCCG	0.421													18	51	---	---	---	---					
INSM1	3642	broad.mit.edu	37	20	20350324	20350325	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chr20:20350324_20350325insA	ENST00000310227.1	+	1	1560_1561	c.1413_1414insA	c.(1411-1416)tgagtafs	p.V472fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	472					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGTTCCCCTGCAAGTACTGCCC	0.658													10	51	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			6	13	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99551615	99551615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56291b3c-595c-4388-a264-9037a48401d8	bdc58b10-1756-45bf-a34f-fa4095429476	g.chrX:99551615delT	ENST00000373034.4	-	6	4782	c.3107delA	c.(3106-3108)agfs	p.K1036fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.K989fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.K988fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1036					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACAGTCCTCTTGCCTTTCAG	0.597													28	40	---	---	---	---