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
CPS1	1373	broad.mit.edu	37	2	211454904	211454904	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTTGATCGCGGGAGGACCGG	0.483000													100	215					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43308789	43308789	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:43308789C>T	ENST00000328249.3	+	9	2082	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	ERMAP_ENST00000372517.2_Silent_p.L438L|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Silent_p.L438L			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	438	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTGTCCCTCAAGGTGAACT	0.517000													45	93					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153250	74153250	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:74153250G>A	ENST00000443185.2	-	3	2078	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGCAGCCTCGTCGGCCAGGC	0.701000													14	19					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12361173	12361173	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:12361173G>A	ENST00000426973.1	-	2	43	c.44C>T	c.(43-45)aCc>aTc	p.T15I				P15621	ZNF44_HUMAN	zinc finger protein 44	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ATCTTCAAAGGTCACTGAGTC	0.443000													20	55					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73434495	73434495	+	Translation_Start_Site	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:73434495C>T	ENST00000286657.4	-	0	21					NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCGAGTTCACTTTCCAACTA	0.448000													16	36					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462965	120462965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:120462965C>T	ENST00000256646.2	-	30	5585	c.5366G>A	c.(5365-5367)tGg>tAg	p.W1789*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1789					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTGTGTCCATGGCCGTCG	0.532000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				32	91					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158210	106158210	+	Silent	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:106158210C>A	ENST00000513237.1	+	3	3971	c.3174C>A	c.(3172-3174)gcC>gcA	p.A1058A	TET2_ENST00000380013.4_Silent_p.A1037A|TET2_ENST00000545826.1_Silent_p.A1037A|TET2_ENST00000305737.2_Silent_p.A1037A|TET2_ENST00000540549.1_Silent_p.A1037A|TET2_ENST00000413648.2_Silent_p.A1037A|TET2_ENST00000394764.1_Silent_p.A1037A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1037					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTTTCACGCCAAGTCGTTAT	0.428000			"""Mis N, F"""		MDS								31	66					2.85442e-18	3.03143e-18	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153056713	153056713	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:153056713C>A	ENST00000285900.5	+	7	1364	c.1021C>A	c.(1021-1023)Ctg>Atg	p.L341M	GRIA1_ENST00000521843.2_Missense_Mutation_p.L272M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L351M|GRIA1_ENST00000518142.1_Missense_Mutation_p.L261M|GRIA1_ENST00000448073.4_Missense_Mutation_p.L351M|GRIA1_ENST00000340592.5_Missense_Mutation_p.L341M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	341					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGAGAGCTCTGCAGCAGGT	0.507000													9	29					1.08611e-07	1.12725e-07	1	1	0
SNAPC4	6621	broad.mit.edu	37	9	139282281	139282281	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:139282281C>T	ENST00000298532.2	-	11	1511	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	381	Myb-like 2.				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)		TGGAGTCTCTCCCTTCCATAT	0.557000													41	79					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105770646	105770646	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:105770646G>A	ENST00000369755.3	+	13	3402	c.2857G>A	c.(2857-2859)Gca>Aca	p.A953T	SLK_ENST00000335753.4_Intron|SLK_ENST00000474260.1_Intron	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	953					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)		AGAGGAGCTTGCACAAAGCCA	0.443000													14	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577529	7577529	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:7577529A>T	ENST00000420246.2	-	7	884	c.752T>A	c.(751-753)aTc>aAc	p.I251N	TP53_ENST00000359597.4_Missense_Mutation_p.I251N|TP53_ENST00000445888.2_Missense_Mutation_p.I251N|TP53_ENST00000413465.2_Missense_Mutation_p.I251N|TP53_ENST00000455263.2_Missense_Mutation_p.I251N|TP53_ENST00000269305.4_Missense_Mutation_p.I251N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	251	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)		GATGGTGAGGATGGGCCTCCG	0.582000		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)			25	62					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3490818	3490818	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:3490818G>A	ENST00000301744.4	-	3	384	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CATCAAAGCCGCATCCTCCAA	0.468000													6	198					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99098961	99098961	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr13:99098961G>A	ENST00000376586.2	+	27	3375	c.3039G>A	c.(3037-3039)tcG>tcA	p.S1013S	FARP1_ENST00000319562.6_Silent_p.S982S|FARP1_ENST00000595437.1_Silent_p.S1013S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	982	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.S982S(1)|p.S1013S(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCGGCTACTCGCTCACCATCC	0.552000													30	81					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20304417	20304417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr13:20304417G>A	ENST00000338910.4	-	6	1279	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTGCTGTCGCCTCAGTTCC	0.368000													96	195					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653117	55653117	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:55653117G>T	ENST00000449290.2	+	2	305	c.213G>T	c.(211-213)aaG>aaT	p.K71N		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	71						intracellular	zinc ion binding										TTTGTTTGAAGAACATGGCTT	0.473000													15	13					1.49906e-05	1.53262e-05	1	1	0
TENM1	10178	broad.mit.edu	37	X	123514960	123514960	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:123514960A>G	ENST00000422452.2	-	32	7688	c.7625T>C	c.(7624-7626)gTa>gCa	p.V2542A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.V2535A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCAGCTGTTACTATGCCATC	0.438000													56	114					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188811	24188811	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:24188811G>A	ENST00000265769.4	+	12	1362	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.G185R|ADAM28_ENST00000397649.3_Missense_Mutation_p.G165R|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G418R	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	418	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTGGAAATGGGAGAGGACTG	0.373000													11	46					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183585677	183585677	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:183585677T>C	ENST00000317096.4	-	2	357	c.297A>G	c.(295-297)atA>atG	p.I99M	PARL_ENST00000435888.1_Missense_Mutation_p.I99M|PARL_ENST00000311101.5_Missense_Mutation_p.I99M	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	99					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGGTTTTATGAGACTCC	0.418000													49	103					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24720064	24720064	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:24720064G>A	ENST00000396475.2	+	12	1670	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	MPP6_ENST00000409761.1_Silent_p.A345A|MPP6_ENST00000222644.4_Silent_p.A457A	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	457	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATTTATTGCGGCTCCGGAGC	0.418000													60	109					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043580	74043580	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:74043580C>T	ENST00000409561.1	+	3	2351	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	744										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTAGCCTCACGTAGGCCTGC	0.537000													77	188					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083816	17083816	+	RNA	SNP	G	G	A	rs11260920	by1000genomes	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:17083816G>A	ENST00000455405.2	-	0	772																											GTGCATACTCGGTTGGGGATT	0.572000													5	25					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	62					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417673	44417673	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:44417673G>T	ENST00000269973.5	-	10	3005	c.1915C>A	c.(1915-1917)Cca>Aca	p.P639T	ZNF45_ENST00000589703.1_Missense_Mutation_p.P639T|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	639					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CATTTGTATGGTTTTTCTCCG	0.478000													57	104					7.47603e-22	8.1287e-22	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602863	10602863	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:10602863C>T	ENST00000171111.5	-	3	1262	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	KEAP1_ENST00000393623.2_Missense_Mutation_p.V239M|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	239	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCGCAGCGCACGTTCAGGTCG	0.637000													41	30					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542660	187542660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:187542660G>A	ENST00000441802.2	-	10	5289	c.5080C>T	c.(5080-5082)Caa>Taa	p.Q1694*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1694	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGATGATTGACTATGGGCT	0.393000										HNSCC(5;0.00058)			64	29					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110406220	110406220	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:110406220A>T	ENST00000519681.1	+	10	1051	c.609A>T	c.(607-609)gaA>gaT	p.E203D	PAK3_ENST00000372010.1_Missense_Mutation_p.E197D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000372007.4_Missense_Mutation_p.E182D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403000										TSP Lung(19;0.15)			4	165					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50746258	50746258	+	Silent	SNP	T	T	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:50746258T>A	ENST00000300589.2	+	4	2541	c.2436T>A	c.(2434-2436)ccT>ccA	p.P812P		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	812					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)				AGCTGCTGCCTTGCCTTGGTG	0.612000													87	145					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24722043	24722043	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:24722043A>T	ENST00000376454.3	+	4	703	c.673A>T	c.(673-675)Aaa>Taa	p.K225*	KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.K145*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.K225*|KIAA1217_ENST00000430453.2_Nonsense_Mutation_p.K146*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.K225*	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	225					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTCACCATGAAAATGCTGGA	0.418000													38	80					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49713312	49713312	+	Silent	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:49713312A>G	ENST00000451037.2	-	7	1633	c.693T>C	c.(691-693)agT>agC	p.S231S	CA10_ENST00000340813.6_Silent_p.S237S|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Silent_p.S156S|CA10_ENST00000442502.2_Silent_p.S231S|CA10_ENST00000285273.4_Silent_p.S231S	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	231					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AAGTGATGAAACTAGAGGTCT	0.393000													37	77					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:40400626G>A	ENST00000338305.6	-	2	769	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597000													7	42					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134906561	134906561	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:134906561T>C	ENST00000607359.1	+	10	1832	c.1832T>C	c.(1831-1833)gTa>gCa	p.V611A	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCACTGTGTAGGAAAGAAG	0.607000													3	6					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16974109	16974109	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:16974109G>A	ENST00000318063.5	+	13	1566	c.1524_splice	c.e13+1	p.R508_splice		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		GAGGATTCCGGGTAAACCTAC	0.294000													4	100					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831234	36831234	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:36831234G>A	ENST00000270001.7	-	5	1609	c.1494C>T	c.(1492-1494)caC>caT	p.H498H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GAATTCTCTGGTGTTGAGTAA	0.393000													36	79					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1950354	1950354	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:1950354C>T	ENST00000278317.6	+	7	306	c.87C>T	c.(85-87)acC>acT	p.T29T	TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000397301.1_Silent_p.T40T|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381548.3_Silent_p.T31T|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000360603.3_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	40					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TGGAAGACACCGCAGAGGAGG	0.667000													41	108					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110474046	110474046	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:110474046A>G	ENST00000378402.5	+	48	7396	c.7292A>G	c.(7291-7293)gAa>gGa	p.E2431G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2431					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)			TTTGGAGAAGAAATAGGAAGT	0.393000										HNSCC(38;0.096)			8	10					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39058417	39058417	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:39058417G>A	ENST00000355481.4	+	92	13635	c.13504G>A	c.(13504-13506)Gag>Aag	p.E4502K	RYR1_ENST00000360985.3_Missense_Mutation_p.E4502K|RYR1_ENST00000359596.3_Missense_Mutation_p.E4507K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4507	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCAGTGCCGAGAATGGGGA	0.597000													30	44					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696262	153696262	+	Silent	SNP	T	T	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:153696262T>A	ENST00000369682.3	+	21	3913	c.3738T>A	c.(3736-3738)acT>acA	p.T1246T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1246					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCGCAAGACTCAGGACGCGG	0.687000													48	57					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10109536	10109536	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:10109536G>A	ENST00000380861.4	+	23	3665	c.3274G>A	c.(3274-3276)Gtc>Atc	p.V1092I	WWC3_ENST00000454666.1_Missense_Mutation_p.V1092I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1092										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCGACGACGTCTGATGGAG	0.418000													38	40					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964459	11964459	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:11964459G>A	ENST00000339865.5	+	19	3450	c.2687G>A	c.(2686-2688)gGa>gAa	p.G896E	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.G984E|USP47_ENST00000527733.1_Missense_Mutation_p.G964E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	984					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTGGCTAATGGACTTGACTCT	0.418000													44	63					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													6	48					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676804	73676804	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:73676804C>G	ENST00000264448.6	+	8	3258	c.3147C>G	c.(3145-3147)taC>taG	p.Y1049*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y1007*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Y1049*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1049	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTAGTTCTTACCCACAGAGGG	0.488000													69	170					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151100525	151100525	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:151100525C>T	ENST00000474524.1	+	31	4605	c.4567C>T	c.(4567-4569)Cta>Tta	p.L1523L	MED12L_ENST00000273432.4_Silent_p.L1383L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1523					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAACTCCGCCTAAATTTGGT	0.393000													12	53					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614182	46614182	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:46614182G>A	ENST00000396000.2	+	5	657	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PPARA_ENST00000434345.2_Missense_Mutation_p.R131Q|PPARA_ENST00000262735.5_Missense_Mutation_p.R131Q|PPARA_ENST00000402126.1_Missense_Mutation_p.R131Q|PPARA_ENST00000407236.1_Missense_Mutation_p.R131Q			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	131					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CGAACGATTCGACTCAAGCTG	0.468000													13	39					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984154	41984154	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562000													40	66					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8934009	8934009	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:8934009C>A	ENST00000256707.3	-	12	1388	c.1207G>T	c.(1207-1209)Gca>Tca	p.A403S	KIDINS220_ENST00000319688.5_Missense_Mutation_p.A404S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A361S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A403S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A403S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	403					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTCGCCTGCTTTGTTGGGC	0.413000													44	81					3.54561e-26	3.88598e-26	1	1	0
RP11-85G18.6	0	broad.mit.edu	37	10	27535230	27535230	+	RNA	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:27535230G>A	ENST00000574842.1	+	0	255																											GTCTCACTTCGTGAAGAGCAT	0.438000													14	25					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416478	187416478	+	Silent	SNP	G	G	T	rs140924394		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:187416478G>T	ENST00000358241.1	-	2	914	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	162					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TCCAGTGAACGATGCCCTCCT	0.657000													13	36					5.50884e-06	5.67452e-06	1	1	0
UBE2L3	7332	broad.mit.edu	37	22	21947165	21947165	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:21947165C>T	ENST00000342192.4	+	2	241	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.R73C	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	15					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					TGAAGAAATCCGCAAATGTGG	0.413000													73	43					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724930	30724930	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:30724930T>C	ENST00000361762.2	+	1	2894	c.1886T>C	c.(1885-1887)gTg>gCg	p.V629A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V629A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	629	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGTGCAGGTGGCTGATAAA	0.502000													28	67					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243349562	243349562	+	Splice_Site	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:243349562A>G	ENST00000366542.1	-	9	1322	c.1272_splice	c.e9+1	p.V424_splice	CEP170_ENST00000366543.1_Splice_Site_p.V424_splice|CEP170_ENST00000366544.1_Splice_Site_p.V424_splice	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	424						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGACTTACAACAGCTTGGTC	0.413000													62	189					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22212931	22212931	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:22212931G>A	ENST00000356766.6	+	23	2983	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	PIWIL2_ENST00000454009.2_Silent_p.K945K|PIWIL2_ENST00000521356.1_Silent_p.K909K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	945	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTCCTTGCAAGTATGCCCACA	0.488000													39	70					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57967712	57967712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:57967712G>T	ENST00000321039.3	-	1	142	c.143C>A	c.(142-144)tCa>tAa	p.S48*	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	48					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358000													27	65					5.61819e-17	5.92071e-17	1	1	0
DBH	1621	broad.mit.edu	37	9	136507569	136507569	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:136507569C>T	ENST00000393056.2	+	3	739	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	243					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGGCTTCTCTCGGCACCACAT	0.612000													6	23					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243801019	243801019	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:243801019T>C	ENST00000366539.1	-	6	655	c.455A>G	c.(454-456)aAa>aGa	p.K152R	AKT3_ENST00000263826.5_Missense_Mutation_p.K152R|AKT3_ENST00000366540.1_Missense_Mutation_p.K152R|AKT3_ENST00000336199.5_Missense_Mutation_p.K152R			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	152	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ACCTAGTAGTTTCAAATAGTC	0.269000													10	44					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	62					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284504	46284504	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:46284504G>A	ENST00000256413.3	+	8	1094	c.799G>A	c.(799-801)Gca>Aca	p.A267T	CTIF_ENST00000382998.4_Missense_Mutation_p.A267T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	267	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.A267T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGAGGCAGGCGCACACCGCAA	0.652000													26	42					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66094308	66094308	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:66094308A>T	ENST00000503581.1	-	8	1807	c.1270T>A	c.(1270-1272)Tgg>Agg	p.W424R	EYS_ENST00000370616.2_Missense_Mutation_p.W424R|EYS_ENST00000393380.2_Missense_Mutation_p.W424R|EYS_ENST00000370618.3_Missense_Mutation_p.W424R|EYS_ENST00000370621.3_Missense_Mutation_p.W424R|EYS_ENST00000342421.5_Missense_Mutation_p.W424R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	424					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						TTGAAACACCATTCTTCATTC	0.323000													7	52					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158254	106158254	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:106158254A>G	ENST00000513237.1	+	3	4015	c.3218A>G	c.(3217-3219)aAg>aGg	p.K1073R	TET2_ENST00000380013.4_Missense_Mutation_p.K1052R|TET2_ENST00000545826.1_Missense_Mutation_p.K1052R|TET2_ENST00000305737.2_Missense_Mutation_p.K1052R|TET2_ENST00000540549.1_Missense_Mutation_p.K1052R|TET2_ENST00000413648.2_Missense_Mutation_p.K1052R|TET2_ENST00000394764.1_Missense_Mutation_p.K1052R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1052			E -> V.		cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAATCACAGAAGCAAGTAAAA	0.453000			"""Mis N, F"""		MDS								34	60					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49070105	49070105	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:49070105G>A	ENST00000395443.2	-	8	2469	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	QRICH1_ENST00000357496.2_Missense_Mutation_p.T666M|QRICH1_ENST00000424300.1_Missense_Mutation_p.T666M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	666										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCGGATACTCGTGCTTTTATC	0.507000													40	90					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84879426	84879426	+	Missense_Mutation	SNP	C	C	T	rs140773433		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:84879426C>T	ENST00000262424.5	+	3	499	c.275C>T	c.(274-276)gCg>gTg	p.A92V	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.A92V|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A92V	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	92						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TCTGCTGCAGCGTGGGCCAGT	0.597000													32	49					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156644	61156644	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr18:61156644A>G	ENST00000382771.4	+	4	663	c.371A>G	c.(370-372)aAa>aGa	p.K124R	SERPINB5_ENST00000489441.1_Missense_Mutation_p.K124R	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	124					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTCAAAGATAAATTGGAAGAA	0.383000													4	89					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420577	89420577	+	RNA	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:89420577T>C	ENST00000532352.1	+	0	1392							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTAAAAAAAGTCCTTCCCCAG	0.338000													40	102					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744968	50744968	+	Silent	SNP	C	C	T	rs104895476		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr16:50744968C>T	ENST00000300589.2	+	4	1251	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	382	NACHT.		D -> E (in EOS).		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	p.D382D(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGGCTTTGACGAGTTCAAGT	0.542000													30	61					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89337895	89337895	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:89337895G>A	ENST00000338104.6	+	12	1152	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	TTC8_ENST00000346301.4_Missense_Mutation_p.R311Q|TTC8_ENST00000354441.6_Missense_Mutation_p.R86Q|TTC8_ENST00000345383.5_Missense_Mutation_p.R341Q|TTC8_ENST00000358622.5_Missense_Mutation_p.R153Q|TTC8_ENST00000536576.1_Missense_Mutation_p.R112Q|TTC8_ENST00000380656.2_Missense_Mutation_p.R351Q			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	377					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.R351Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTGAAAAGGCGGCTGCTGCAG	0.363000													12	53					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589098	140589098	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:140589098G>A	ENST00000239450.2	+	1	808	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		207	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCGCCCGGAGCTCAGTTT	0.502000													27	50					0	0	1	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982774	42982774	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:42982774C>G	ENST00000418176.1	+	2	2127	c.93C>G	c.(91-93)atC>atG	p.I31M	KRBOX1_ENST00000426937.1_Missense_Mutation_p.I31M|KRBOX1_ENST00000383748.4_Missense_Mutation_p.I31M|KRBOX1_ENST00000418093.2_3'UTR			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	31	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			lung(2)	2						AATGGGCCATCATGGTGCCTG	0.517000													8	17					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170338003	170338003	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:170338003C>G	ENST00000523189.1	+	7	789	c.625C>G	c.(625-627)Caa>Gaa	p.Q209E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	209					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCAGGATCAATGTCAGCA	0.348000			T	TRD@	ALL								29	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	56					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135798766	135798766	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:135798766G>A	ENST00000298552.3	-	6	698	c.477C>T	c.(475-477)ggC>ggT	p.G159G	TSC1_ENST00000403810.1_Silent_p.G159G|TSC1_ENST00000545250.1_Silent_p.G108G|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Silent_p.G159G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	159					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATGACAGACGGCCAAAAATGT	0.438000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				4	48					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172918	94172918	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr9:94172918C>T	ENST00000297689.3	-	2	493	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	33					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGACACTTCCGTTAAAGCAG	0.473000													5	238					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193104	179193104	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:179193104C>T	ENST00000292599.3	+	2	1356	c.1093C>T	c.(1093-1095)Ccg>Tcg	p.P365S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	365					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)			AAACCTGATGCCGGCATCAGC	0.627000													4	62					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	23					1	1	1	1	0
DAAM2	23500	broad.mit.edu	37	6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:39864627G>A	ENST00000538976.1	+	20	2563	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	DAAM2_ENST00000274867.4_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000606829.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	794	FH2.				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)					CGCAGCAAGCGTCTTAGACAG	0.612000													6	22					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557000													15	50					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122983380	122983380	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:122983380C>T	ENST00000336229.4	-	2	366	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATACCTCGGTCGAGTCAGAAT	0.289000													8	47					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52360897	52360897	+	Silent	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:52360897A>G	ENST00000296585.5	+	14	1901	c.1758A>G	c.(1756-1758)gtA>gtG	p.V586V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	586					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGGAGCTGTATACATTTACA	0.393000													6	160					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457610	110457610	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr8:110457610C>T	ENST00000378402.5	+	38	5616	c.5512C>T	c.(5512-5514)Cca>Tca	p.P1838S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1838	IPT/TIG 11.				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)			ATCTCTATCACCAACTTCTGG	0.493000										HNSCC(38;0.096)			32	54					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533034	165533034	+	Silent	SNP	G	G	A	rs151094083		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:165533034G>A	ENST00000294818.1	+	2	1205	c.915G>A	c.(913-915)tcG>tcA	p.S305S	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	305						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGACGAGCTCGGTCCAGGAGT	0.567000													29	56					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7728557	7728557	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:7728557C>T	ENST00000507866.2	+	21	2905	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	SORCS2_ENST00000329016.9_Silent_p.G760G	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	932						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CGGACACGGGCGACGTGCGTG	0.652000													57	91					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16736663	16736663	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:16736663G>A	ENST00000433922.2	+	9	1124	c.946G>A	c.(946-948)Gag>Aag	p.E316K	BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Missense_Mutation_p.E240K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Missense_Mutation_p.E316K|BZW2_ENST00000407633.1_Missense_Mutation_p.E122K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	316	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ACTTGTTGCAGAGCAGGCTCT	0.438000													22	53					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337168	102337168	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:102337168G>C	ENST00000425463.2	-	8	941	c.638C>G	c.(637-639)tCt>tGt	p.S213C	NXF3_ENST00000395065.3_Intron|NXF3_ENST00000425644.1_Intron			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	305						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTGGTGACAGAGGGTACAAC	0.562000													56	115					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950189	198950189	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:198950189G>T	ENST00000428675.1	+	2	2346	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D552Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	650	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGAGGATCGATTCCAGTAA	0.423000													29	56					2.4375e-19	2.60888e-19	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702454	27702454	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:27702454C>T	ENST00000438700.3	-	1	843	c.726G>A	c.(724-726)gcG>gcA	p.A242A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	242					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTTTTCCCGCGCCACGCGCA	0.627000													20	37					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63829516	63829516	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:63829516A>G	ENST00000279873.7	+	8	1569	c.1159A>G	c.(1159-1161)Agc>Ggc	p.S387G	ARID5B_ENST00000309334.5_Missense_Mutation_p.S144G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	387	ARID.				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)					TAATCCTGGGAGCACCAGCGC	0.408000													18	26					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27235085	27235085	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:27235085C>T	ENST00000429849.2	-	1	362	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	111										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CAGGTTGTCTCCATTTAGAAG	0.413000													15	31					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793356	52793356	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:52793356G>A	ENST00000439461.1	+	4	355	c.312G>A	c.(310-312)aaG>aaA	p.K104K	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.K119K|ZNF766_ENST00000593612.1_Silent_p.K119K	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CAGGAAACAAGCCTATTACAA	0.383000													7	77					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27609881	27609881	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:27609881C>T	ENST00000319394.3	+	5	767	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	WDTC1_ENST00000361771.3_Missense_Mutation_p.H78Y	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	78							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGACCCGCTGCACCACAAGAA	0.542000													30	82					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135025348	135025348	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:135025348G>A	ENST00000304613.3	+	23	4243	c.4222G>A	c.(4222-4224)Ggc>Agc	p.G1408S	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1410S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1408					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCAGAGGACGGCATCTCCAG	0.642000													12	10					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863177	154863177	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:154863177G>A	ENST00000287907.2	+	1	1144	c.568G>A	c.(568-570)Gag>Aag	p.E190K	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	190						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGAGGGCAGCGAGGAGTGCCA	0.612000													19	33					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765459	18765459	+	Silent	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:18765459G>A	ENST00000304081.4	-	5	886	c.786C>T	c.(784-786)gaC>gaT	p.D262D	NT5C1B_ENST00000359846.2_Silent_p.D322D|NT5C1B_ENST00000600945.1_Silent_p.D322D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTTCCTGCCGTCCACCATGT	0.557000													79	173					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791524	42791524	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:42791524C>T	ENST00000572681.2	+	5	3300	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	CIC_ENST00000575354.2_Missense_Mutation_p.R169C|CIC_ENST00000160740.3_Missense_Mutation_p.R169C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	169	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCGGAAAACGTCGGACCCA	0.602000			"""Mis, F, S"""		oligodendroglioma								35	83					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616161	73616161	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:73616161C>T	ENST00000261917.3	-	8	3266	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	758					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGCCTGGACGCGGTGCGCGCA	0.642000													24	42					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538710	31538710	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr21:31538710C>A	ENST00000286808.3	-	1	261	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	76					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTTTCCAGGGCAGGCGGGAGA	0.572000													22	57					6.32553e-13	6.61525e-13	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173951938	173951938	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:173951938G>A	ENST00000367696.2	-	5	1046	c.695C>T	c.(694-696)cCa>cTa	p.P232L	RC3H1_ENST00000258349.4_Missense_Mutation_p.P232L|RC3H1_ENST00000367694.2_Missense_Mutation_p.P232L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	232					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGAAACCGTGGCTCCAATCT	0.433000													67	97					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30051610	30051610	+	Nonsense_Mutation	SNP	G	G	T	rs74315495		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:30051610G>T	ENST00000338641.4	+	6	985	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Nonsense_Mutation_p.E182*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E140*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E182*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E182*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E182*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E99*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E99*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E141*|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	182	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GATGACTCCGGAAATGTGGGA	0.393000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				19	24					1.90627e-21	2.05637e-21	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238244924	238244924	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:238244924G>A	ENST00000295550.4	-	40	9271	c.8819C>T	c.(8818-8820)aCg>aTg	p.T2940M	COL6A3_ENST00000409809.1_Missense_Mutation_p.T2734M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2734M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2739M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2740M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2333M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2940	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTCGCTGCCGTTGCTGGCTT	0.637000													49	106					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172427	78172427	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:78172427A>C	ENST00000369947.2	-	1	1063	c.694T>G	c.(694-696)Tac>Gac	p.Y232D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	232					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GCTTCTACGTAGATGCGGCCA	0.607000													12	53					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	531					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423000													51	102					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221370	56221370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:56221370C>T	ENST00000357606.3	-	3	1362	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W358*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W358*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	358					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTATCCCTCCAGCCTAACCG	0.572000													30	66					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100630195	100630195	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:100630195C>T	ENST00000308731.7	-	2	241	c.78G>A	c.(76-78)aaG>aaA	p.K26K	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.K26K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	26	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACAGGCGCTTCTTGAAGTTTA	0.428000									Agammaglobulinemia, X-linked				96	196					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22606916	22606916	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:22606916C>T	ENST00000333957.4	-	24	3040	c.2785G>A	c.(2785-2787)Gct>Act	p.A929T	C2CD5_ENST00000446597.1_Missense_Mutation_p.A980T|C2CD5_ENST00000542676.1_Missense_Mutation_p.A980T|C2CD5_ENST00000536386.1_Missense_Mutation_p.A982T|C2CD5_ENST00000545552.1_Missense_Mutation_p.A983T|C2CD5_ENST00000544930.1_Missense_Mutation_p.A785T|C2CD5_ENST00000396028.2_Missense_Mutation_p.A971T	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		GCAACATGAGCTCTCACCATT	0.388000													34	77					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891608	115891608	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr4:115891608A>C	ENST00000264363.2	-	4	1877	c.1199T>G	c.(1198-1200)aTt>aGt	p.I400S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	400	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTTGTTGAGAATCATCTGCTC	0.423000													15	56					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807039	143807039	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:143807039T>C	ENST00000408979.2	+	1	433	c.364T>C	c.(364-366)Tat>Cat	p.Y122H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTATGATAGGTATGTGGCCAT	0.473000													56	129					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47266579	47266579	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr20:47266579G>A	ENST00000396220.1	-	24	3005	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C	PREX1_ENST00000371941.3_Missense_Mutation_p.R995C			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	995					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)			CGTCCAAAGCGGATGCTGAAG	0.547000													92	57					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11489042	11489042	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:11489042C>T	ENST00000222139.6	-	8	1249	c.1145G>A	c.(1144-1146)aGt>aAt	p.S382N	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	382						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GAGGTCCTCACTGGGCGGGTT	0.612000											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	17					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134302	27134302	+	Silent	SNP	C	C	T	rs138651027	byFrequency	TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr7:27134302C>T	ENST00000343060.4	-	2	826	c.765G>A	c.(763-765)acG>acA	p.T255T	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	255						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCGGGCGCGCGTCAGGTACT	0.562000													44	70					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14951049	14951049	+	Silent	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr10:14951049C>T	ENST00000453695.2	-	14	1521	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378278.2_Silent_p.L479L|DCLRE1C_ENST00000378255.1_Silent_p.L359L|DCLRE1C_ENST00000378254.1_Silent_p.L359L|DCLRE1C_ENST00000378246.2_Silent_p.L364L|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Silent_p.L132L|DCLRE1C_ENST00000378258.1_Silent_p.L359L|DCLRE1C_ENST00000396817.2_Silent_p.L359L|DCLRE1C_ENST00000357717.2_Silent_p.L364L|DCLRE1C_ENST00000378249.1_Silent_p.L364L	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	479					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CAGCCTTTTGCAGGTGAAGTA	0.433000								Non-homologous end-joining					5	166					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCTCTGCCCGTCGCTGTCCT	0.443000													13	141					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45573294	45573294	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:45573294G>A	ENST00000544944.2	+	17	2524	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q	CLASRP_ENST00000221455.3_Missense_Mutation_p.R630Q|CLASRP_ENST00000391953.4_Missense_Mutation_p.R568Q			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	630	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CGGGAACGCCGAGAGAAGGAG	0.637000													35	77					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686413	50686413	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr22:50686413C>T	ENST00000216271.5	-	13	1595	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A395T|HDAC10_ENST00000448072.1_Missense_Mutation_p.A365T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	415					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		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)		GTTGTCAGGGCAACAGCGGTG	0.652000													18	15					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018011	1018011	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr11:1018011T>G	ENST00000421673.2	-	31	4840	c.4790A>C	c.(4789-4791)aAg>aCg	p.K1597T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1597	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTGGTCTTGAAGGATGT	0.567000													14	542					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41272545	41272545	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr15:41272545G>A	ENST00000361937.3	-	36	4971	c.4547C>T	c.(4546-4548)tCc>tTc	p.S1516F	INO80_ENST00000401393.3_Missense_Mutation_p.S1516F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1516	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCAAAGGGGAACTCAAAGG	0.562000													29	48					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49087678	49087678	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:49087678C>T	ENST00000376265.2	-	3	428	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A123T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A58T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	123					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTGTGGTTGGCAGTGTTGGAG	0.622000													4	2					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083808	17083808	+	RNA	SNP	G	G	A	rs140260478		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:17083808G>A	ENST00000455405.2	-	0	780																											GCGACCTTGTGCATACTCGGT	0.562000													4	28					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145793	70145793	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chrX:70145793C>T	ENST00000374299.3	-	12	1874	c.1729_splice	c.e12-1	p.G577_splice	SLC7A3_ENST00000298085.4_Splice_Site_p.G577_splice			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	577					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATAGCAAAGCCTAGTGGGGA	0.498000													24	75					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780174	24780174	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr14:24780174G>A	ENST00000528054.1	+	1	2014	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	LTB4R2_ENST00000533293.1_Missense_Mutation_p.A102T|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A102T|CIDEB_ENST00000555817.1_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	133					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTACGTGTGCGCGCTCAGCAT	0.726000													8	40					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32387756	32387756	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:32387756G>C	ENST00000265069.8	-	14	2500	c.2398C>G	c.(2398-2400)Ctc>Gtc	p.L800V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	800	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTCCTCGGAGAAGTAATCCT	0.383000													37	75					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393971	46393971	+	Silent	SNP	T	T	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:46393971T>G	ENST00000322217.5	-	3	1196	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus	DNA binding	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GGAGCGGGGCTGGGGGGGGCC	0.657000													5	9					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464471	202464471	+	Silent	SNP	G	G	C			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:202464471G>C	ENST00000406302.3	+	16	2349	c.2196G>C	c.(2194-2196)acG>acC	p.T732T	PPP1R12B_ENST00000336894.4_Silent_p.T732T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000367270.4_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	732					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AACCCACCACGCCAGCATCTC	0.463000													21	43					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156873743	156873745	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr1:156873743_156873745delCTT	ENST00000338302.3	+	3	250_252	c.25_27delCTT	c.(25-27)del	p.L11del	PEAR1_ENST00000292357.7_In_Frame_Del_p.L11del			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	11						integral to membrane		p.L9F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTCCCCTCCTTCTCCTGGCTG	0.640													54	104	---	---	---	---					
AC011747.6	0	broad.mit.edu	37	2	8743629	8743629	+	RNA	DEL	A	A	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:8743629delA	ENST00000425678.1	-	0	439																											TGTTTGTACTAAAAAAAAAAA	0.289													2	4	---	---	---	---					
LOC101927156	101927156	broad.mit.edu	37	2	182030521	182030521	+	RNA	DEL	A	A	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr2:182030521delA	ENST00000435411.1	+	0	144																											gaggaggaagaagaggaagag	0.458													2	4	---	---	---	---					
ACTL6A	86	broad.mit.edu	37	3	179305757	179305759	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr3:179305757_179305759delGAA	ENST00000429709.2	+	14	1462_1464	c.1249_1251delGAA	c.(1249-1251)del	p.E418del	ACTL6A_ENST00000392662.1_In_Frame_Del_p.E376del|ACTL6A_ENST00000450518.2_In_Frame_Del_p.E376del	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	418					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	p.E417*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCAAGAATATGAAGAAGGAGGGA	0.360													13	69	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141335643	141335656	+	Frame_Shift_Del	DEL	TGGGCACCAGCAGG	TGGGCACCAGCAGG	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr5:141335643_141335656delTGGGCACCAGCAGG	ENST00000231484.3	-	1	2971_2984	c.1761_1774delCCTGCTGGTGCCCA	c.(1759-1776)catcfs	p.HLLVPI587fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	587					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCTCGATGGGCACCAGCAGGTGGCCTGTGG	0.593													23	68	---	---	---	---					
RRAGD	58528	broad.mit.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gat>ga	p.ED22del	RRAGD_ENST00000359203.2_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	22					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754													2	4	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132445250	132445251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr12:132445250_132445251insG	ENST00000333577.4	+	2	195_196	c.86_87insG	c.(85-87)cgcfs	p.R29fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.R29fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.R29fs			Q96L91	EP400_HUMAN	E1A binding protein p400	29					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)		GAGGAGCAGCCGGCCCACCCCA	0.653													2	4	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													3	3	---	---	---	---					
ZNF580	51157	broad.mit.edu	37	19	56154293	56154293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T0-01A-12D-A34J-08	TCGA-P3-A6T0-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9867577f-7e72-45fa-a516-d2e32f2307d6	dfb1e2f1-e818-4e06-a08c-6adc2c76b192	g.chr19:56154293delC	ENST00000543039.1	+	1	876	c.419delC	c.(418-420)gcfs	p.A140fs	ZNF580_ENST00000545125.1_Frame_Shift_Del_p.A140fs|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Frame_Shift_Del_p.A140fs	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCATCGCGCCACGCAccgc	0.741													2	4	---	---	---	---