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
CHAMP1	283489	broad.mit.edu	37	13	115090946	115090946	+	Silent	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:115090946A>G	ENST00000361283.1	+	3	1938	c.1629A>G	c.(1627-1629)ccA>ccG	p.P543P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	543	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CTGCTTCTCCAGAAGCACGCA	0.527000													8	392					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95191198	95191198	+	Silent	SNP	G	G	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:95191198G>T	ENST00000371501.4	-	4	434	c.312C>A	c.(310-312)atC>atA	p.I104I	MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371502.4_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000359263.4_Silent_p.I104I			Q9NZM1	MYOF_HUMAN	myoferlin	104					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAGCAGGGAGATCAGCTTGT	0.448000													26	38					3.90053e-15	4.07388e-15	1	1	0
SULT1A2	6799	broad.mit.edu	37	16	28606753	28606753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28606753G>A	ENST00000395630.1	-	4	657	c.307C>T	c.(307-309)Cga>Tga	p.R103*	SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*|SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCAGGAGTCGTGGGGCTGGT	0.592000													12	115					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294846	222294846	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:222294846T>C	ENST00000281821.2	-	15	2563	c.2522A>G	c.(2521-2523)tAt>tGt	p.Y841C	EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	841	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTAACCGATAGCCTTCCTC	0.527000													9	58					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50683336	50683336	+	Silent	SNP	C	C	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr5:50683336C>A	ENST00000230658.7	+	3	816	c.231C>A	c.(229-231)atC>atA	p.I77I	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	77					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTACGGGATCAAATGCGCCA	0.622000													10	13					0.00010058	0.00010058	1	1	0
SCG2	7857	broad.mit.edu	37	2	224462280	224462280	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:224462280G>A	ENST00000305409.2	-	2	1953	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	574					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P574Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCATTCTTCGGGGGCCCCAC	0.493000													4	117					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52199070	52199070	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:52199070C>T	ENST00000371471.2	-	2	721	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q			O75362	ZN217_HUMAN	zinc finger protein 217	99					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTTCAACCCGAAGAACTGC	0.443000													38	187					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													3	35					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6470639	6470639	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:6470639C>G	ENST00000525074.1	-	11	2373	c.1979G>C	c.(1978-1980)gGc>gCc	p.G660A	TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	660					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATGGGAGCCAAACTTGAA	0.602000													4	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T	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)			49	21					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16352371	16352371	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:16352371C>T	ENST00000354981.2	-	21	3543	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H|KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCCTGAAGGCGTCTTTGGAC	0.443000													9	154					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746794	94746794	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr8:94746794C>G	ENST00000399300.2	-	3	2058	c.1845G>C	c.(1843-1845)agG>agC	p.R615S	RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	615							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTCCTCCTCCCTAGGGTGCC	0.642000													11	81					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64571946	64571946	+	Silent	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:64571946G>A	ENST00000337652.1	-	10	2211	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	MEN1_ENST00000377321.1_Silent_p.L530L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_Silent_p.L570L|MEN1_ENST00000394374.2_Silent_p.L570L|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000315422.4_Silent_p.L565L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	570					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCACCAGCAGCTCCTTC	0.577000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				24	178					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324886	72324886	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr15:72324886C>T	ENST00000356056.5	-	3	1356	c.884G>A	c.(883-885)cGt>cAt	p.R295H	MYO9A_ENST00000566885.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	295	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCCCAAAACGACTTGAATT	0.328000													22	44					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997768	38997768	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:38997768C>T	ENST00000609713.1	-	4	1554	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTAGGAGCTTCGAGCTTGGCA	0.527000													24	33					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183494	33183494	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:33183494C>G	ENST00000397061.3	+	1	628	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	210	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGGCACCACTCGCCGCTTTGA	0.677000													3	21					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276377	16276377	+	Silent	SNP	G	G	A	rs115546382	by1000genomes	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:16276377G>A	ENST00000205557.7	-	17	2168	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	713	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCTCCTGCCCGAAGCACACAT	0.567000													26	40					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								31	66					0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557000			T	HMGA2	lipoma								47	58					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059749	60059749	+	Silent	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:60059749A>G	ENST00000355131.3	+	3	259	c.36A>G	c.(34-36)ccA>ccG	p.P12P	MS4A4A_ENST00000337908.4_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P|MS4A4A_ENST00000532114.1_Silent_p.P31P	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	31						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AGGCCATGCCAGGGGCTGGCC	0.473000													12	73					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3700842	3700842	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:3700842G>C	ENST00000324932.7	-	31	5435	c.5015C>G	c.(5014-5016)tCt>tGt	p.S1672C	NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1689					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAAGCCCAGATGTTTCCCA	0.463000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								26	54					0	0	1	0	0
APOC1P1	342	broad.mit.edu	37	19	45430262	45430262	+	RNA	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45430262G>A	ENST00000574565.1	+	0	53					NR_028412.1																						TCCCGGTCCTGGTGGTGGTTC	0.627000													6	18					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888009	205888009	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:205888009C>T	ENST00000367135.3	-	19	2328	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	739						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTAGCATTTGCCTGGGCAAAG	0.522000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	237					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97403691	97403691	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:97403691G>A	ENST00000264963.4	-	2	323	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_Intron	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	101	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTTACCACCCGGTTCCACAAG	0.483000													6	63					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277544	159277544	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:159277544G>A	ENST00000368115.1	+	6	695	c.596G>A	c.(595-597)cGt>cAt	p.R199H	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413000													26	123					0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991465	14991465	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:14991465A>T	ENST00000327462.2	-	1	799	c.703T>A	c.(703-705)Tac>Aac	p.Y235N		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AATGCCTTGTACTTCCCCTGA	0.502000													13	114					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890079	51890079	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr6:51890079G>A	ENST00000371117.3	-	32	4804	c.4529C>T	c.(4528-4530)gCc>gTc	p.A1510V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1510	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTGTGGTGGCTAACCTCTG	0.473000													61	99					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149505350	149505350	+	RNA	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:149505350T>C	ENST00000378016.2	+	0	8908							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGCACCTGTGTCTCTGG	0.607000													4	174					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8115663	8115663	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8115663G>C	ENST00000305253.4	+	5	730	c.489G>C	c.(487-489)aaG>aaC	p.K163N	TUB_ENST00000299506.2_Missense_Mutation_p.K108N|TUB_ENST00000534099.1_Missense_Mutation_p.K114N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	108					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTTCAGCCAAGAGAACCAAGG	0.602000													77	173					0	0	1	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354093	28354093	+	Silent	SNP	T	T	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28354093T>C	ENST00000532254.1	-	7	1798	c.1113A>G	c.(1111-1113)tcA>tcG	p.S371S	NPIPB6_ENST00000533640.1_Silent_p.S353S	NM_001282524.1	NP_001269453.1			nuclear pore complex interacting protein family, member B6																		TGGGTTTCGGTGATTGTTCCA	0.557000													5	8					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123706	11123706	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:11123706A>G	ENST00000358026.2	+	16	2640	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTGGGGAAGACCATCCAGAC	0.577000			"""F, N, Mis"""		NSCLC								9	60					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912593	26912593	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:26912593G>A	ENST00000321765.5	-	8	2151	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	607					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.R607W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGAATTCCCGCATGGATGCT	0.537000													5	258					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528588	57528588	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:57528588G>T	ENST00000420713.1	+	4	533	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCACAAAGGAGGTTATAATTA	0.343000													19	33					2.35188e-11	2.40301e-11	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													6	226					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046569	73046569	+	RNA	SNP	A	A	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chrX:73046569A>T	ENST00000604411.1	+	0	34530				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAGTCTTGAGATACCTTTTTC	0.517000													6	63					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8117074	8117074	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8117074G>C	ENST00000305253.4	+	6	833	c.592G>C	c.(592-594)Gac>Cac	p.D198H	TUB_ENST00000299506.2_Missense_Mutation_p.D143H|TUB_ENST00000534099.1_Missense_Mutation_p.D149H	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	143	Asp/Glu-rich.				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTGGCAGAAGACAAGTCTGA	0.652000													56	24					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34029205	34029205	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:34029205C>T	ENST00000382499.2	-	21	2703	c.2704G>A	c.(2704-2706)Gtt>Att	p.V902I	SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V863I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	863	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATCAGGGCAACGACAGGCCTT	0.343000													11	83					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51044141	51044141	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr22:51044141G>A	ENST00000399908.2	+	5	1911	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	665					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGGTGCCCGGCCCTGCCAA	0.672000													4	28					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805603	20805603	+	RNA	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:20805603G>A	ENST00000577537.1	+	0	787				RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA																							GGCCTTCTACGCCCATTACTG	0.567000													5	164					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702370	27702370	+	Silent	SNP	G	G	A			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development	integral to membrane	hedgehog receptor activity	p.Y270Y(1)		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						CCTGCCAGGCGTACAGGATCG	0.627000													7	53					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80880816	80880816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr9:80880816delA	ENST00000376597.4	+	15	1986	c.1842delA	c.(1840-1842)ctafs	p.L614fs	CEP78_ENST00000424347.2_Intron|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000277082.5_Intron	NM_001098802.1	NP_001092272.1	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	599					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGGAACACTAATGAAGGTAC	0.294													2	4	---	---	---	---					
NKPD1	284353	broad.mit.edu	37	19	45656283	45656283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45656283delC	ENST00000317951.4	-	4	1411	c.1412delG	c.(1411-1413)ggcfs	p.G471fs	NKPD1_ENST00000438936.2_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTGAGCACGCCCACCACGCG	0.662													2	4	---	---	---	---					
