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
TRIM5	85363	broad.mit.edu	37	11	5686482	5686482	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:5686482C>A	ENST00000305836.5	-	8	1341	c.1039G>T	c.(1039-1041)Ggc>Tgc	p.G347C	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.G347C			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	347	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCAGGATGCCAGTACAATAA	0.453000													4	112					0.00909568	0.00936097	0.009096	1	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578457C>T	ENST00000420246.2	-	5	605	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000269305.4_Missense_Mutation_p.R158H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GGCCATGGCGCGGACGCGGGT	0.627000		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)			8	54					0	0	0.003080	0	0
LPHN1	22859	broad.mit.edu	37	19	14262302	14262302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:14262302G>A	ENST00000340736.6	-	24	4105	c.3808C>T	c.(3808-3810)Cga>Tga	p.R1270*	LPHN1_ENST00000361434.3_Nonsense_Mutation_p.R1265*|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1270					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCGGCCTCGGGGCGGCTCA	0.637000													12	47					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141115599	141115599	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:141115599C>A	ENST00000389484.3	-	74	12315	c.11344G>T	c.(11344-11346)Gat>Tat	p.D3782Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3782	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAGTCGATCACACTGGAGA	0.413000										TSP Lung(27;0.18)			21	56					3.5997e-14	4.1743e-14	0.014323	1	0
TAGLN3	29114	broad.mit.edu	37	3	111732320	111732320	+	Silent	SNP	A	A	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:111732320A>C	ENST00000393917.2	+	5	1074	c.522A>C	c.(520-522)atA>atC	p.I174I	TAGLN3_ENST00000486460.1_Silent_p.I90I|TAGLN3_ENST00000478951.1_Silent_p.I174I|TAGLN3_ENST00000273368.4_Silent_p.I174I|TAGLN3_ENST00000455401.2_Silent_p.I174I	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	174					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						AGAACGTAATAGGCCTGCAGA	0.577000													22	68					0	0	0.012319	0	0
SNX8	29886	broad.mit.edu	37	7	2296548	2296548	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:2296548G>A	ENST00000222990.3	-	10	1287	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	415					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAAGGCGCGGAGGATGTGGG	0.627000													9	33					0	0	0.004482	0	0
RABEP1	9135	broad.mit.edu	37	17	5264712	5264712	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:5264712C>A	ENST00000262477.6	+	9	1529	c.1305C>A	c.(1303-1305)gaC>gaA	p.D435E	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Missense_Mutation_p.D435E|RABEP1_ENST00000408982.2_Missense_Mutation_p.D435E|RABEP1_ENST00000537505.1_Missense_Mutation_p.D392E|RABEP1_ENST00000341923.6_Missense_Mutation_p.D435E	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	435					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAACCTGGACGAGTCAGATT	0.468000													8	45					5.18039e-06	5.53921e-06	0.003080	1	0
BPIFB6	128859	broad.mit.edu	37	20	31620810	31620810	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:31620810G>A	ENST00000349552.1	+	2	118	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	40						extracellular region	lipid binding										CGCCATGGATGAGAGTCATAT	0.557000													10	50					0	0	0.010729	0	0
IGF1R	3480	broad.mit.edu	37	15	99251204	99251204	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:99251204G>T	ENST00000268035.6	+	2	1119	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	IGF1R_ENST00000558762.1_Missense_Mutation_p.V170L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	170					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)	TAACTACATTGTGGGGAATAA	0.517000													9	95					7.48243e-07	8.10596e-07	0.006214	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460350	107460350	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:107460350G>C	ENST00000409382.3	-	2	694	c.84C>G	c.(82-84)atC>atG	p.I28M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I28M|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I28M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	28					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGTGAAGTAGATGAAAATCA	0.562000													7	24					0	0	0.001984	0	0
FHOD3	80206	broad.mit.edu	37	18	34156443	34156443	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:34156443G>A	ENST00000257209.4	+	6	663	c.541G>A	c.(541-543)Gga>Aga	p.G181R	FHOD3_ENST00000445677.1_Missense_Mutation_p.G181R|FHOD3_ENST00000359247.4_Missense_Mutation_p.G181R|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.G181R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	181	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTATGTGGATGGAATGAATGG	0.368000													11	42					0	0	0.013537	0	0
NCOR2	9612	broad.mit.edu	37	12	124839420	124839420	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:124839420G>A	ENST00000356219.3	-	26	3623	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T	NCOR2_ENST00000429285.2_Silent_p.T1139T|NCOR2_ENST00000405201.1_Silent_p.T1149T|NCOR2_ENST00000404621.1_Silent_p.T1139T|NCOR2_ENST00000404121.2_Silent_p.T710T|NCOR2_ENST00000397355.1_Silent_p.T1140T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1157					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCCCCATGGTGACAGGGC	0.672000													11	48					0	0	0.013537	0	0
YEATS2	55689	broad.mit.edu	37	3	183433041	183433041	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:183433041G>A	ENST00000305135.5	+	2	286	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	31					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAAGCAATTGAGAATTCAGG	0.398000													13	40					0	0	0.002450	0	0
DHRS2	10202	broad.mit.edu	37	14	24108117	24108117	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:24108117C>T	ENST00000250383.6	+	2	520	c.44C>T	c.(43-45)cCc>cTc	p.P15L	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.P15L	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGGTTTCATCCCTGTGCTAGG	0.582000													43	74					0	0	0.009718	0	0
ACAD8	27034	broad.mit.edu	37	11	134128424	134128424	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:134128424G>A	ENST00000281182.4	+	4	502	c.396G>A	c.(394-396)atG>atA	p.M132I	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Missense_Mutation_p.M34I|ACAD8_ENST00000537423.1_Missense_Mutation_p.M55I	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	132					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GTGCCTGGATGATTGATAGCT	0.433000													10	18					0	0	0.013537	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139056	126139056	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:126139056C>T	ENST00000299308.3	+	9	3045	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P525S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1013						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAAAAATGAACCTATGAATTC	0.463000													5	26					0	0	0.001168	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402562	139402562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:139402562C>A	ENST00000277541.6	-	21	3430	c.3355G>T	c.(3355-3357)Gga>Tga	p.G1119*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1119	EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAGCCCTCCATGCTGGCAC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	25					2.17888e-05	2.3098e-05	0.006214	1	0
ARMC9	80210	broad.mit.edu	37	2	232081419	232081419	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:232081419G>C	ENST00000349938.4	+	5	611	c.417G>C	c.(415-417)ttG>ttC	p.L139F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	139							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGCAGCCTTGAGCCAGACCA	0.458000													20	95					0	0	0.012319	0	0
NT5M	56953	broad.mit.edu	37	17	17248203	17248203	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:17248203C>T	ENST00000389022.4	+	4	741	c.525C>T	c.(523-525)gaC>gaT	p.D175D	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	175					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCTCATAGACGACCGGCCGG	0.602000													12	34					0	0	0.010729	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265992	89265992	+	RNA	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:89265992G>T	ENST00000464162.1	-	0	168																											GCCCTGACTTGCCCGGCAAGT	0.512000													39	144					3.33393e-15	3.88435e-15	0.004878	1	0
SLC6A5	9152	broad.mit.edu	37	11	20658775	20658775	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:20658775C>T	ENST00000525748.1	+	12	2068	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	599					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGTACCTACGCACACACAA	0.483000													25	51					0	0	0.003954	0	0
PRKCA	5578	broad.mit.edu	37	17	64299053	64299053	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:64299053G>A	ENST00000413366.3	+	1	110	c.84G>A	c.(82-84)caG>caA	p.Q28Q	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	28					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGCTGAGGCAGAAGAACGTGC	0.627000													24	34					0	0	0.003330	0	0
UBN1	29855	broad.mit.edu	37	16	4909145	4909145	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:4909145G>C	ENST00000396658.4	+	4	1255	c.552G>C	c.(550-552)aaG>aaC	p.K184N	UBN1_ENST00000545171.1_Missense_Mutation_p.K184N|UBN1_ENST00000590769.1_Missense_Mutation_p.K184N|UBN1_ENST00000262376.6_Missense_Mutation_p.K184N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	184	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGAAAAGAAGAAAAAATCTC	0.393000													18	43					0	0	0.007413	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143656	41143656	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:41143656C>T	ENST00000361677.1	+	5	1777	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	589	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGCTCAGTCGCCTCAGCAG	0.547000													9	23					0	0	0.006214	0	0
OR11H6	122748	broad.mit.edu	37	14	20692052	20692052	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:20692052G>C	ENST00000315519.2	+	1	262	c.184G>C	c.(184-186)Gct>Cct	p.A62P		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AGGGAATGGAGCTATTGTCTG	0.488000													3	110					0	0	0.009096	0	0
CATSPERD	257062	broad.mit.edu	37	19	5749165	5749165	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:5749165C>T	ENST00000381624.3	+	11	1019	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	320						integral to membrane											TTATGGCAATCTGGGCATCGT	0.433000													13	34					0	0	0.001855	0	0
ITGB1	3688	broad.mit.edu	37	10	33211193	33211193	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:33211193C>A	ENST00000396033.2	-	9	1255	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S	ITGB1_ENST00000423113.1_Missense_Mutation_p.A374S|ITGB1_ENST00000374956.4_Missense_Mutation_p.A374S|ITGB1_ENST00000302278.3_Missense_Mutation_p.A374S	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	374	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACATTGTATGCATCAATGATC	0.323000													12	52					0.000151284	0.00015901	0.001855	1	0
SLC41A3	54946	broad.mit.edu	37	3	125786954	125786954	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:125786954C>T	ENST00000360370.4	-	2	152	c.109G>A	c.(109-111)Gat>Aat	p.D37N	SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.D37N|SLC41A3_ENST00000315891.6_Missense_Mutation_p.D37N			Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	37						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGAGCTCCATCTTCTGAGGCT	0.642000													26	98					0	0	0.004656	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488000													16	249					0	0	0.006122	0	0
HADHB	3032	broad.mit.edu	37	2	26502944	26502944	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:26502944G>T	ENST00000317799.5	+	10	998	c.894G>T	c.(892-894)aaG>aaT	p.K298N	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.K175N|HADHB_ENST00000537713.1_Missense_Mutation_p.K283N|HADHB_ENST00000545822.1_Missense_Mutation_p.K276N	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	298					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCATCAAGCCCTACGGCA	0.373000													18	82					7.41877e-09	8.18052e-09	0.012319	1	0
SPPL2C	162540	broad.mit.edu	37	17	43923775	43923775	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:43923775G>T	ENST00000329196.5	+	1	1520	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	501						integral to membrane	aspartic-type endopeptidase activity										AACCTGCCTTGCTCTACCTAG	0.612000													18	83					1.33834e-09	1.49579e-09	0.007413	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56703265	56703265	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:56703265C>T	ENST00000586855.2	-	3	855	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R181Q			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGCTGCTCTCGGCGGGCCTG	0.642000													5	19					0	0	0.003080	0	0
ERBB3	2065	broad.mit.edu	37	12	56486845	56486845	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56486845G>C	ENST00000267101.3	+	11	1699	c.1259G>C	c.(1258-1260)gGc>gCc	p.G420A	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.G361A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	420					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCATTGGAGGCAGAAGCCTC	0.468000													7	24					0	0	0.001984	0	0
BACE1	23621	broad.mit.edu	37	11	117161343	117161343	+	Silent	SNP	C	C	T	rs75519595	by1000genomes	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:117161343C>T	ENST00000313005.6	-	8	1585	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	BACE1_ENST00000510630.1_Silent_p.T250T|BACE1_ENST00000445823.2_Silent_p.T331T|BACE1_ENST00000392937.6_Silent_p.T275T|BACE1_ENST00000428381.2_Silent_p.T306T|BACE1_ENST00000513780.1_Silent_p.T350T|BACE1_ENST00000528053.1_Silent_p.T341T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	375					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGTCTTGGGACGTGGCCACAT	0.532000													8	17					0	0	0.003080	0	0
EPHA2	1969	broad.mit.edu	37	1	16464347	16464347	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16464347C>A	ENST00000358432.5	-	5	1467		c.e5+1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGGACCTCACCTGTCTGGTT	0.622000													25	35					0.00106085	0.00111029	0.006320	1	0
ITGA11	22801	broad.mit.edu	37	15	68695271	68695271	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:68695271G>C	ENST00000423218.2	-	2	245	c.150C>G	c.(148-150)atC>atG	p.I50M	ITGA11_ENST00000315757.7_Missense_Mutation_p.I50M			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	50					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TATTGCCACTGATGTCGTGCT	0.632000													4	11					0	0	0.009096	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166457	32166457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:32166457G>C	ENST00000375023.3	-	25	4724	c.4586C>G	c.(4585-4587)tCa>tGa	p.S1529*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1529					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCAGGGCCTGAGCACATCAC	0.542000													6	27					0	0	0.001984	0	0
DGKA	1606	broad.mit.edu	37	12	56334131	56334131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56334131G>T	ENST00000331886.5	+	11	1286	c.832G>T	c.(832-834)Gag>Tag	p.E278*	DGKA_ENST00000394147.1_Nonsense_Mutation_p.E278*|DGKA_ENST00000551156.1_Nonsense_Mutation_p.E278*|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	278					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGGAGGCTGTGAGTCCGGGCG	0.597000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	89					1.56452e-12	1.78082e-12	0.007413	1	0
SERINC3	10955	broad.mit.edu	37	20	43129936	43129936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:43129936C>T	ENST00000342374.4	-	9	1218	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	SERINC3_ENST00000541235.1_Missense_Mutation_p.R299H|SERINC3_ENST00000255175.1_Missense_Mutation_p.R354H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	354						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGTGGAAGTGCGGATGCTGGA	0.493000													12	66					0	0	0.013537	0	0
FARSB	10056	broad.mit.edu	37	2	223494891	223494891	+	Silent	SNP	T	T	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:223494891T>G	ENST00000281828.6	-	9	1052	c.789A>C	c.(787-789)gcA>gcC	p.A263A	FARSB_ENST00000536361.1_Silent_p.A164A	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	263					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAACTATTTTTGCCTGCAAAG	0.299000													10	39					0	0	0.010729	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128846491	128846491	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:128846491C>G	ENST00000310343.9	-	19	2118	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E358Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E633Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E358Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	707					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAGACTCCTCACTTTTAGCT	0.363000													17	77					0	0	0.002780	0	0
FAM126B	285172	broad.mit.edu	37	2	201846381	201846381	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846381G>A	ENST00000418596.2	-	12	1392	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	402						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCGAACTACTGAATCTCGAGG	0.488000													5	33					0	0	0.001168	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													10	46					0	0	0.008291	0	0
PACSIN3	29763	broad.mit.edu	37	11	47200778	47200778	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:47200778C>T	ENST00000539589.1	-	8	1174	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	PACSIN3_ENST00000298838.6_Missense_Mutation_p.E278K	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	278					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AGATCCTCTTCGTCACTGGCT	0.612000													51	109					0	0	0.014410	0	0
VCL	7414	broad.mit.edu	37	10	75857067	75857067	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75857067C>T	ENST00000211998.4	+	13	1943	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P617S|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	617	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	p.P617S(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CACGGCGCCTCCTGATGCGCC	0.502000													16	75					0	0	0.004007	0	0
OR2L13	284521	broad.mit.edu	37	1	248263205	248263205	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:248263205C>A	ENST00000366478.2	+	3	865	c.528C>A	c.(526-528)ttC>ttA	p.F176L	OR2L13_ENST00000358120.2_Missense_Mutation_p.F176L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTGACCATTTCTTCTGCGATG	0.463000													26	135					4.7796e-09	5.31785e-09	0.004656	1	0
MITF	4286	broad.mit.edu	37	3	70014097	70014097	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:70014097G>A	ENST00000352241.4	+	10	1424	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	MITF_ENST00000531774.1_Missense_Mutation_p.V258I|MITF_ENST00000314557.6_Missense_Mutation_p.V314I|MITF_ENST00000314589.5_Missense_Mutation_p.V405I|MITF_ENST00000472437.1_Missense_Mutation_p.V369I|MITF_ENST00000394351.3_Missense_Mutation_p.V320I|MITF_ENST00000394355.2_Missense_Mutation_p.V396I|MITF_ENST00000328528.6_Missense_Mutation_p.V420I|MITF_ENST00000448226.2_Missense_Mutation_p.V427I	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	427	DNA binding regulation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCAAGAACCCGTTCTTGAGAA	0.493000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						13	43					0	0	0.001855	0	0
UBE2L6	9246	broad.mit.edu	37	11	57319916	57319916	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:57319916G>A	ENST00000340573.4	-	4	785	c.179C>T	c.(178-180)gCt>gTt	p.A60V	UBE2L6_ENST00000287156.4_Missense_Mutation_p.A126V	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	126					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						CAGCAGGTCAGCGAGGTCCAT	0.572000													36	166					0	0	0.004878	0	0
LY6D	8581	broad.mit.edu	37	8	143866646	143866646	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143866646G>A	ENST00000301263.4	-	3	453	c.378C>T	c.(376-378)ccC>ccT	p.P126P	LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	126					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTCACAGGCTGGGGGCTAAGA	0.667000													5	21					0	0	0.000602	0	0
EPHA3	2042	broad.mit.edu	37	3	89390977	89390977	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:89390977C>T	ENST00000336596.2	+	5	1268	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	EPHA3_ENST00000452448.2_Missense_Mutation_p.P348L|EPHA3_ENST00000494014.1_Missense_Mutation_p.P348L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	348	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGAGTTGGCCCCTGGACACA	0.433000										TSP Lung(6;0.00050)			14	36					0	0	0.003163	0	0
LGR4	55366	broad.mit.edu	37	11	27389780	27389780	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:27389780G>A	ENST00000379214.4	-	18	2933	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	LGR4_ENST00000389858.4_Silent_p.I806I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	830						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTGGCTACTGATGGAAACTG	0.448000													29	142					0	0	0.008361	0	0
RPL31	6160	broad.mit.edu	37	2	101622470	101622470	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:101622470G>A	ENST00000264258.3	+	4	884	c.283G>A	c.(283-285)Gat>Aat	p.D95N	RPL31_ENST00000409733.1_Missense_Mutation_p.D95N|RPL31_ENST00000409650.1_Missense_Mutation_p.D95N|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409028.4_Missense_Mutation_p.D95N|RPL31_ENST00000409038.1_Missense_Mutation_p.D95N|RPL31_ENST00000409320.3_Missense_Mutation_p.D95N	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						ACGTAATGAGGATGAAGATTC	0.378000													8	30					0	0	0.006214	0	0
CLMN	79789	broad.mit.edu	37	14	95677035	95677035	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:95677035G>A	ENST00000298912.4	-	7	903	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	264	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTGGCTCCAGGAGCCTGGGG	0.458000													7	85					0	0	0.001984	0	0
TMED6	146456	broad.mit.edu	37	16	69381705	69381705	+	Missense_Mutation	SNP	G	G	C	rs117823350	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69381705G>C	ENST00000288025.3	-	3	530	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.S151C|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	159					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ATTGCATCCAGAGTATCATTC	0.413000													28	149					0	0	0.012213	0	0
SREBF2	6721	broad.mit.edu	37	22	42269956	42269956	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:42269956G>A	ENST00000361204.4	+	5	1188	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	341	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATTGAGAAACGATATCGCTCC	0.478000													6	24					0	0	0.001168	0	0
BAI1	575	broad.mit.edu	37	8	143562715	143562715	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143562715G>C	ENST00000517894.1	+	10	2823	c.1929G>C	c.(1927-1929)caG>caC	p.Q643H	BAI1_ENST00000323289.5_Missense_Mutation_p.Q643H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	643					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAACATCCAGATGATGGTGA	0.607000													16	66					0	0	0.004990	0	0
ATP10B	23120	broad.mit.edu	37	5	160059205	160059205	+	Silent	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:160059205G>T	ENST00000327245.5	-	13	2397	c.1551C>A	c.(1549-1551)ggC>ggA	p.G517G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	517					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTAGTGGCCCTGGATGG	0.567000													7	43					2.7689e-08	3.02618e-08	0.001984	1	0
PTK7	5754	broad.mit.edu	37	6	43109979	43109979	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43109979C>T	ENST00000230419.4	+	13	2210	c.1989C>T	c.(1987-1989)acC>acT	p.T663T	PTK7_ENST00000349241.2_Silent_p.T533T|PTK7_ENST00000481273.1_Silent_p.T671T|PTK7_ENST00000345201.2_Silent_p.T623T|PTK7_ENST00000352931.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	663	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCGCTACACCTGCATTGCAG	0.607000													24	26					0	0	0.003954	0	0
CENPF	1063	broad.mit.edu	37	1	214818774	214818774	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:214818774C>T	ENST00000366955.3	+	13	6029	c.5861C>T	c.(5860-5862)tCa>tTa	p.S1954L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2050					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.S1954L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAACTCTCAGTGGTCACA	0.393000													13	51					0	0	0.013537	0	0
SCAP	22937	broad.mit.edu	37	3	47469138	47469138	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:47469138C>G	ENST00000265565.5	-	5	842	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	144					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACAACTCCTCCAAGCTCCTG	0.587000													8	25					0	0	0.003080	0	0
EIF2A	83939	broad.mit.edu	37	3	150290245	150290245	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:150290245G>C	ENST00000460851.1	+	10	1421	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	EIF2A_ENST00000487799.1_Missense_Mutation_p.E413Q|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.E224Q|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.E377Q|EIF2A_ENST00000273435.5_Missense_Mutation_p.E433Q			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	438					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTACCCAATGAGGAACCTAA	0.358000													17	62					0	0	0.007413	0	0
DDX6	1656	broad.mit.edu	37	11	118630664	118630664	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:118630664G>A	ENST00000264018.4	-	8	1136	c.831C>T	c.(829-831)tcC>tcT	p.S277S	DDX6_ENST00000526070.2_Silent_p.S277S|DDX6_ENST00000534980.1_Silent_p.S277S	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	277	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGAAAGTAGCGGAATATAGTA	0.383000			T	IGH@	B-NHL								17	33					0	0	0.007413	0	0
RYR1	6261	broad.mit.edu	37	19	39019003	39019003	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39019003C>T	ENST00000355481.4	+	73	10998	c.10867C>T	c.(10867-10869)Cgc>Tgc	p.R3623C	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.R3628C|RYR1_ENST00000359596.3_Missense_Mutation_p.R3628C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3628					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	p.R3628C(1)		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)	GTCCAAACAGCGCCGGCGGGC	0.612000													14	28					0	0	0.004007	0	0
ADCYAP1	116	broad.mit.edu	37	18	909477	909477	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:909477C>T	ENST00000579794.1	+	4	650	c.372C>T	c.(370-372)gaC>gaT	p.D124D	ADCYAP1_ENST00000450565.3_Silent_p.D124D	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	124					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGGGGACGACGCGGAGCCGC	0.672000													19	53					0	0	0.012319	0	0
SON	6651	broad.mit.edu	37	21	34925097	34925097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:34925097C>T	ENST00000356577.4	+	3	4035	c.3560C>T	c.(3559-3561)tCa>tTa	p.S1187L	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1187L|SON_ENST00000381679.4_Missense_Mutation_p.S1187L|SON_ENST00000300278.4_Missense_Mutation_p.S1187L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1187					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTGAGCAGTCAGCATTAACA	0.537000													21	83					0	0	0.008871	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512777	68512777	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68512777C>T	ENST00000370981.1	-	4	840	c.204G>A	c.(202-204)ccG>ccA	p.P68P	DIRAS3_ENST00000395201.1_Silent_p.P68P|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	68					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCAATGGTCGGCAGGTACT	0.597000													25	73					0	0	0.004656	0	0
BRD8	10902	broad.mit.edu	37	5	137500615	137500615	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:137500615C>T	ENST00000254900.5	-	12	1890	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	BRD8_ENST00000455658.2_Missense_Mutation_p.E466K|BRD8_ENST00000411594.2_Missense_Mutation_p.E510K|BRD8_ENST00000230901.5_Missense_Mutation_p.E580K|BRD8_ENST00000402931.1_Missense_Mutation_p.E507K|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	507					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTTGATCTCTGCACTGGGC	0.512000													18	85					0	0	0.008871	0	0
ACVR1	90	broad.mit.edu	37	2	158595074	158595074	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:158595074C>G	ENST00000263640.3	-	10	1702	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	ACVR1_ENST00000434821.1_Missense_Mutation_p.E425Q|ACVR1_ENST00000409283.2_Missense_Mutation_p.E425Q|ACVR1_ENST00000410057.2_Missense_Mutation_p.E425Q	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	425	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTGTAATCCTCCACTATACCT	0.453000													15	78					0	0	0.003163	0	0
CELSR3	1951	broad.mit.edu	37	3	48680426	48680426	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:48680426C>T	ENST00000544264.1	-	30	8675	c.8395G>A	c.(8395-8397)Gag>Aag	p.E2799K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E2794K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2794					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTGCCTCCTCAGGCGCTGCC	0.627000													19	64					0	0	0.012319	0	0
VANGL2	57216	broad.mit.edu	37	1	160389273	160389273	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160389273C>A	ENST00000368061.2	+	4	1148	c.674C>A	c.(673-675)gCc>gAc	p.A225D		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	225					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGACGCCCTTCTTTTC	0.652000													17	67					4.96729e-08	5.40494e-08	0.008871	1	0
ALDH3A2	224	broad.mit.edu	37	17	19555870	19555870	+	Silent	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:19555870G>C	ENST00000176643.6	+	3	842	c.396G>C	c.(394-396)gtG>gtC	p.V132V	ALDH3A2_ENST00000579855.1_Silent_p.V132V|ALDH3A2_ENST00000339618.4_Silent_p.V132V|ALDH3A2_ENST00000581518.1_Silent_p.V132V|ALDH3A2_ENST00000395575.2_Silent_p.V132V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	132					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GAAATGCTGTGATTATAAAGC	0.353000													10	53					0	0	0.010729	0	0
PLCL1	5334	broad.mit.edu	37	2	198949131	198949131	+	Missense_Mutation	SNP	G	G	A	rs140990771		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:198949131G>A	ENST00000428675.1	+	2	1288	c.890G>A	c.(889-891)cGc>cAc	p.R297H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R199H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	297					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)	CTAACCACCCGCGTGACCGAA	0.373000													19	73					0	0	0.008871	0	0
TMED6	146456	broad.mit.edu	37	16	69383442	69383442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69383442G>C	ENST00000288025.3	-	2	381	c.326C>G	c.(325-327)tCt>tGt	p.S109C	RP11-343C2.7_ENST00000564737.1_Silent_p.L101L|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	109	GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CTCTTGGGTAGAGAAGTTAAT	0.443000													33	137					0	0	0.013726	0	0
EPHA10	284656	broad.mit.edu	37	1	38227248	38227248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:38227248C>T	ENST00000373048.4	-	3	678	c.679G>A	c.(679-681)Gag>Aag	p.E227K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E227K|EPHA10_ENST00000319637.6_Missense_Mutation_p.E227K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	227						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGCGCTCTCGGCTGCGGTG	0.716000													9	10					0	0	0.006214	0	0
HMGN2	3151	broad.mit.edu	37	1	26801616	26801616	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:26801616G>A	ENST00000361427.5	+	6	344	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	84					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGAAAGCTGAAGGTGCTGG	0.368000													14	66					0	0	0.002450	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975737	42975737	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:42975737G>A	ENST00000485511.1	+	7	970	c.791G>A	c.(790-792)cGc>cAc	p.R264H	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232H|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158H|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256H	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	264					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R264H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTTTGCATCGCATCTATGGC	0.542000													21	97					0	0	0.008871	0	0
VCL	7414	broad.mit.edu	37	10	75856965	75856965	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75856965C>A	ENST00000211998.4	+	13	1841	c.1747C>A	c.(1747-1749)Cta>Ata	p.L583I	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.L583I|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	583	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTTAAGGATCTAAAAGCTCG	0.438000													16	94					1.52009e-12	1.73825e-12	0.003163	1	0
UBE2O	63893	broad.mit.edu	37	17	74392877	74392877	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:74392877A>G	ENST00000319380.7	-	14	2205	c.2141T>C	c.(2140-2142)aTt>aCt	p.I714T		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	714							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGACTCCTCAATCTCAGACTC	0.557000													23	86					0	0	0.003330	0	0
ITGB1	3688	broad.mit.edu	37	10	33211192	33211192	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:33211192G>A	ENST00000396033.2	-	9	1256	c.1121C>T	c.(1120-1122)gCa>gTa	p.A374V	ITGB1_ENST00000423113.1_Missense_Mutation_p.A374V|ITGB1_ENST00000374956.4_Missense_Mutation_p.A374V|ITGB1_ENST00000302278.3_Missense_Mutation_p.A374V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	374	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACATTGTATGCATCAATGAT	0.328000													12	52					0	0	0.001855	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863052	10863052	+	RNA	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:10863052G>C	ENST00000559480.1	+	0	348																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ATTACTGTGTGAGAGACACAA	0.502000													34	492					0	0	0.004289	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596360	58596360	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:58596360G>A	ENST00000240727.6	-	7	1624	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R465C|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R409C|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.R273C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	409					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTTCCCGCGGGACAAGCCC	0.731000													4	4					0	0	0.009096	0	0
CTCF	10664	broad.mit.edu	37	16	67650751	67650751	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67650751G>A	ENST00000264010.4	+	5	1500	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	CTCF_ENST00000401394.1_Silent_p.K24K	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	352					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCATTCAAGTGTTCCATGT	0.463000													16	181					0	0	0.004990	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32977300	32977300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:32977300G>A	ENST00000380130.2	-	5	606	c.511C>T	c.(511-513)Cga>Tga	p.R171*	N4BP2L1_ENST00000380139.4_Missense_Mutation_p.P168L|N4BP2L1_ENST00000380133.2_Nonsense_Mutation_p.R171*|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000530622.2_Nonsense_Mutation_p.R65*	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	171					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTTTCATTCGGTGGATTTTT	0.363000													18	65					0	0	0.006122	0	0
FNIP2	57600	broad.mit.edu	37	4	159789364	159789364	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:159789364C>T	ENST00000264433.6	+	13	1651	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	FNIP2_ENST00000379346.3_Missense_Mutation_p.R549C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	526					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTACTTTCTCCGTTGCTCTGA	0.498000													19	76					0	0	0.008871	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097165	110097165	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:110097165T>C	ENST00000355943.3	+	8	1066	c.940T>C	c.(940-942)Ttt>Ctt	p.F314L	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Missense_Mutation_p.F101L|SLC25A46_ENST00000504098.1_Missense_Mutation_p.F168L|SLC25A46_ENST00000513807.1_Missense_Mutation_p.F152L|SLC25A46_ENST00000447245.2_Missense_Mutation_p.F233L|SLC25A46_ENST00000509442.2_Missense_Mutation_p.F223L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	314					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGATGCTTATTTTCCAGAACT	0.408000													41	180					0	0	0.010771	0	0
ABCA1	19	broad.mit.edu	37	9	107571747	107571747	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:107571747G>A	ENST00000374736.3	-	30	4668	c.4274_splice	c.e30+1	p.P1425_splice		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1425					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGGCACTCACGGGATTGGGTT	0.512000													10	25					0	0	0.008291	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185047	130185047	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:130185047G>A	ENST00000422113.2	-	2	602	c.276C>T	c.(274-276)gtC>gtT	p.V92V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	92						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCATTGAGGACAGGCAGCC	0.502000													7	27					0	0	0.001984	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015908	47015908	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:47015908C>G	ENST00000584895.1	-	5	342	c.328G>C	c.(328-330)Gat>Cat	p.D110H	MIR1539_ENST00000581232.1_RNA|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.D72H|RPL17_ENST00000581373.1_Missense_Mutation_p.D72H|RPL17_ENST00000580210.1_Missense_Mutation_p.D100H|RPL17_ENST00000579408.1_Missense_Mutation_p.D110H|RPL17_ENST00000580261.1_Missense_Mutation_p.D110H|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579248.1_Missense_Mutation_p.D110H|RPL17_ENST00000418495.1_Missense_Mutation_p.D110H	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					ACCAGAGAATCTACATCTAAA	0.438000													11	24					0	0	0.008291	0	0
PLOD3	8985	broad.mit.edu	37	7	100849690	100849690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:100849690C>T	ENST00000223127.3	-	19	2487	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	697	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATCACACAGTCGTAGCGCAGG	0.652000													7	19					0	0	0.003080	0	0
MKRN3	7681	broad.mit.edu	37	15	23811463	23811463	+	Silent	SNP	T	T	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:23811463T>G	ENST00000314520.3	+	1	1010	c.534T>G	c.(532-534)ggT>ggG	p.G178G	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	178						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAAAGGGGTTTCTTTGAAG	0.612000													4	22					0	0	0.004482	0	0
RASL11A	387496	broad.mit.edu	37	13	27845676	27845676	+	Splice_Site	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:27845676A>G	ENST00000241463.4	+	2	798	c.181_splice	c.e2+1	p.T60_splice		NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	60	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AACCGAATACAGGTGAGAATA	0.418000											OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	110					0	0	0.008291	0	0
SOX3	6658	broad.mit.edu	37	X	139586794	139586794	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:139586794G>A	ENST00000370536.2	-	1	431	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	144					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCATGAAGGCGTTCATGGGCC	0.667000													11	16					0	0	0.010729	0	0
CRTC3	64784	broad.mit.edu	37	15	91181798	91181798	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:91181798C>T	ENST00000420329.2	+	12	1534	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.R463C	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	463					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCCCGCGCCCCTGA	0.672000			T	MAML2	salivary gland mucoepidermoid								15	56					0	0	0.004007	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33403058	33403058	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33403058C>G	ENST00000418600.2	+	6	740	c.639C>G	c.(637-639)atC>atG	p.I213M	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.I154M|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.I213M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	213	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ACAGCTCCATCCTGGGCCAGG	0.552000													24	43					0	0	0.003954	0	0
CYB5R3	1727	broad.mit.edu	37	22	43019858	43019858	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:43019858C>T	ENST00000361740.4	-	8	768	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CYB5R3_ENST00000352397.5_Missense_Mutation_p.E224K|CYB5R3_ENST00000396303.3_Missense_Mutation_p.E201K|CYB5R3_ENST00000407623.3_Missense_Mutation_p.E201K|CYB5R3_ENST00000407332.1_Missense_Mutation_p.E201K|CYB5R3_ENST00000402438.1_Missense_Mutation_p.E201K	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	224					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TTCCTGAGTTCCTCCAGCTCA	0.612000													21	55					0	0	0.003330	0	0
C19orf26	255057	broad.mit.edu	37	19	1235906	1235906	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:1235906G>A	ENST00000590083.1	-	3	409	c.117C>T	c.(115-117)gaC>gaT	p.D39D	C19orf26_ENST00000215376.6_Silent_p.D33D|C19orf26_ENST00000382477.2_Silent_p.D33D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	33						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATGGGGTCTGGCTCTG	0.682000										HNSCC(14;0.022)			24	72					0	0	0.004656	0	0
MYO1G	64005	broad.mit.edu	37	7	45005749	45005749	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:45005749G>A	ENST00000258787.7	-	16	2216	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	694						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGGGGTGAGCGGATGAACAGC	0.647000													8	37					0	0	0.004482	0	0
EPPK1	83481	broad.mit.edu	37	8	144940413	144940413	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:144940413G>A	ENST00000525985.1	-	2	7080	c.7009C>T	c.(7009-7011)Cgc>Tgc	p.R2337C				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGCAGGCGGATGCCGTGC	0.701000													9	397					0	0	0.006214	0	0
BCL9	607	broad.mit.edu	37	1	147091006	147091006	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:147091006G>A	ENST00000234739.3	+	8	1785	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	349	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGAGAATCCCGATGGCCTATC	0.577000			T	"""IGH@, IGL@"""	B-ALL								15	76					0	0	0.004007	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676415	124676415	+	Silent	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:124676415T>C	ENST00000368417.1	+	3	255	c.195T>C	c.(193-195)taT>taC	p.Y65Y	NKAIN2_ENST00000545433.1_Silent_p.Y50Y|NKAIN2_ENST00000546092.1_Silent_p.Y65Y|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000368416.1_Silent_p.Y65Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	65						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTCTACAGTATGCTGTCTGGC	0.373000													30	140					0	0	0.006320	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	104					0	0	0.004672	0	0
FOXA2	3170	broad.mit.edu	37	20	22563766	22563766	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:22563766G>A	ENST00000419308.2	-	2	298	c.96C>T	c.(94-96)aaC>aaT	p.N32N	FOXA2_ENST00000377115.4_Silent_p.N32N|FOXA2_ENST00000319993.4_Silent_p.N38N	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	32	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCAGGCCGGCGTTCATGTTGC	0.667000													20	79					0	0	0.012319	0	0
TONSL	4796	broad.mit.edu	37	8	145661383	145661383	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:145661383C>T	ENST00000409379.3	-	17	2462	c.2433G>A	c.(2431-2433)ccG>ccA	p.P811P	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	811					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGTGGCCCCGCGGTGGGCCAG	0.721000													6	13					0	0	0.001168	0	0
PTH1R	5745	broad.mit.edu	37	3	46937282	46937282	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:46937282G>A	ENST00000449590.1	+	5	439	c.236G>A	c.(235-237)aGg>aAg	p.R79K	PTH1R_ENST00000430002.2_Missense_Mutation_p.R79K|PTH1R_ENST00000418619.1_Missense_Mutation_p.R79K|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Missense_Mutation_p.R79K	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	79						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGGAAGCCCAGGAAAGATAAG	0.547000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	23					0	0	0.010729	0	0
CHIC1	53344	broad.mit.edu	37	X	72797282	72797282	+	Silent	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:72797282C>G	ENST00000373504.6	+	2	421	c.336C>G	c.(334-336)tcC>tcG	p.S112S	CHIC1_ENST00000373502.5_Silent_p.S112S			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					AATTTCCCTCCGTTCTAACAG	0.343000													22	54					0	0	0.003330	0	0
INTS2	57508	broad.mit.edu	37	17	59999129	59999129	+	Silent	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:59999129T>C	ENST00000444766.3	-	4	591	c.516A>G	c.(514-516)gtA>gtG	p.V172V	INTS2_ENST00000251334.6_Silent_p.V164V	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	172					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CCTCCAAATATACTGGACTCT	0.313000													6	28					0	0	0.003080	0	0
TMTC1	83857	broad.mit.edu	37	12	29920863	29920863	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:29920863G>C	ENST00000256062.5	-	2	597	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V	TMTC1_ENST00000552618.1_Missense_Mutation_p.L150V|TMTC1_ENST00000381224.2_Missense_Mutation_p.L42V|TMTC1_ENST00000551659.1_Missense_Mutation_p.L150V|TMTC1_ENST00000539277.1_Missense_Mutation_p.L150V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	150						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACAGCAAAAAGCAATGCCGTT	0.363000													11	36					0	0	0.002450	0	0
HUWE1	10075	broad.mit.edu	37	X	53573400	53573400	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53573400T>C	ENST00000342160.3	-	69	11369	c.10912A>G	c.(10912-10914)Ata>Gta	p.I3638V	HUWE1_ENST00000262854.6_Missense_Mutation_p.I3638V|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3638					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTATTACCTATTTGTTTACAA	0.483000													3	6					0	0	0.004672	0	0
LRRC36	55282	broad.mit.edu	37	16	67418858	67418858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67418858G>A	ENST00000329956.6	+	14	2150	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	LRRC36_ENST00000563189.1_Missense_Mutation_p.E590K|LRRC36_ENST00000541146.1_Missense_Mutation_p.E183K|LRRC36_ENST00000290940.7_3'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.E486K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	711										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCTGCCTCCTGAGAAGGGTCA	0.517000													13	44					0	0	0.002450	0	0
PACS2	23241	broad.mit.edu	37	14	105849196	105849196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:105849196C>T	ENST00000447393.1	+	15	1746	c.1571C>T	c.(1570-1572)tCt>tTt	p.S524F	PACS2_ENST00000325438.8_Missense_Mutation_p.S520F|PACS2_ENST00000547217.1_Missense_Mutation_p.S490F|PACS2_ENST00000458164.2_Missense_Mutation_p.S524F|PACS2_ENST00000430725.2_Missense_Mutation_p.S445F	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	520					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGCACGTGCTCTCCTGCGGAC	0.637000													5	17					0	0	0.004482	0	0
LAMC1	3915	broad.mit.edu	37	1	183086470	183086470	+	Missense_Mutation	SNP	G	G	A	rs148393996	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:183086470G>A	ENST00000258341.4	+	9	1837	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	527	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGGGTGGCGTGCGGAACAG	0.463000													3	27					0	0	0.000602	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA4_ENST00000512229.2_Silent_p.N451N|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647000													23	74					0	0	0.012319	0	0
EFCAB7	84455	broad.mit.edu	37	1	64034060	64034060	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:64034060G>T	ENST00000371088.4	+	12	1823	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	526							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GCATGTAGTGGACAACTTGAG	0.368000													11	31					6.42651e-13	7.38302e-13	0.010729	1	0
EIF5	1983	broad.mit.edu	37	14	103802212	103802212	+	Silent	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:103802212C>G	ENST00000216554.3	+	3	691	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EIF5_ENST00000392715.2_Silent_p.V5V|EIF5_ENST00000558506.1_Silent_p.V5V|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	5					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CTGTCAATGTCAACCGCAGCG	0.403000													31	102					0	0	0.003755	0	0
SLC23A3	151295	broad.mit.edu	37	2	220029051	220029051	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220029051G>C	ENST00000455516.2	-	9	1248	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	SLC23A3_ENST00000409878.3_Missense_Mutation_p.Q393E|SLC23A3_ENST00000396775.3_Silent_p.L189L|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q276E	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	393					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTTGCTGAGATCCAGCC	0.542000													2	7					0	0	0.004672	0	0
SSPO	23145	broad.mit.edu	37	7	149493600	149493600	+	RNA	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:149493600C>T	ENST00000378016.2	+	0	6676							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)			GGGCTGCGAGCCAGGTACAGG	0.672000													15	68					0	0	0.004007	0	0
ATF5	22809	broad.mit.edu	37	19	50436276	50436276	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:50436276G>A	ENST00000423777.2	+	3	1153	c.776G>A	c.(775-777)cGc>cAc	p.R259H	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.R259H	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	259					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCCGTGGAGCGCGAGATCCAG	0.667000													6	24					0	0	0.001168	0	0
LY9	4063	broad.mit.edu	37	1	160793987	160793987	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160793987C>G	ENST00000263285.5	+	9	1877	c.1847C>G	c.(1846-1848)tCt>tGt	p.S616C	LY9_ENST00000368041.2_Missense_Mutation_p.S486C|LY9_ENST00000368035.1_Intron|LY9_ENST00000341032.4_Missense_Mutation_p.S482C|LY9_ENST00000368040.1_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	616					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCCAGTTTCTCAGAAGGAA	0.498000													33	100					0	0	0.005524	0	0
LOXL3	84695	broad.mit.edu	37	2	74763429	74763429	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:74763429C>T	ENST00000264094.3	-	6	1153	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	LOXL3_ENST00000409549.1_Missense_Mutation_p.R361H|LOXL3_ENST00000409986.1_Missense_Mutation_p.R216H|LOXL3_ENST00000393937.2_Missense_Mutation_p.R216H|LOXL3_ENST00000409249.1_Missense_Mutation_p.R361H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	361	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGCCCCATGCGAGCGCCACT	0.642000													33	130					0	0	0.003755	0	0
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000568373.1_Silent_p.A78A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	78					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672000													4	14					0	0	0.001168	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858539	27858539	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:27858539G>T	ENST00000359303.2	-	1	31	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	11					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCCGCCGGTAGACTTGCGAGC	0.582000													5	34					8.12818e-05	8.57975e-05	0.001984	1	0
NFATC2	4773	broad.mit.edu	37	20	50158922	50158922	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:50158922C>T	ENST00000371564.3	-	1	336	c.117G>A	c.(115-117)ttG>ttA	p.L39L	NFATC2_ENST00000396009.3_Silent_p.L39L|NFATC2_ENST00000414705.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672000													6	27					0	0	0.001984	0	0
TMEM131	23505	broad.mit.edu	37	2	98430838	98430838	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:98430838C>G	ENST00000186436.5	-	14	1534	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	TMEM131_ENST00000425805.2_3'UTR	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	436						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCAGCATGATCAAATCCCAAA	0.323000													5	22					0	0	0.001168	0	0
CES2	8824	broad.mit.edu	37	16	66973244	66973244	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:66973244G>C	ENST00000317091.4	+	3	1582	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	CES2_ENST00000417689.1_Missense_Mutation_p.E200Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	136					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCATAGCCATGAAGGCTCTAA	0.542000													25	88					0	0	0.004656	0	0
ZNF831	128611	broad.mit.edu	37	20	57766301	57766301	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:57766301C>T	ENST00000371030.2	+	1	227	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCGCGCCCCGCTAGTGACG	0.716000													3	13					0	0	0.004672	0	0
LZTFL1	54585	broad.mit.edu	37	3	45879466	45879466	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:45879466C>A	ENST00000296135.6	-	2	255	c.81G>T	c.(79-81)ttG>ttT	p.L27F	LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Missense_Mutation_p.L10F	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	27										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTGAGTCTCAAGCCTCTCT	0.403000													6	51					0.00198382	0.00206752	0.001984	1	0
AGL	178	broad.mit.edu	37	1	100387120	100387120	+	Silent	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:100387120C>A	ENST00000294724.4	+	34	4990	c.4512C>A	c.(4510-4512)acC>acA	p.T1504T	AGL_ENST00000361915.3_Silent_p.T1504T|AGL_ENST00000370161.2_Silent_p.T1488T|AGL_ENST00000370165.3_Silent_p.T1504T|AGL_ENST00000361522.4_Silent_p.T1487T|AGL_ENST00000370163.3_Silent_p.T1504T|AGL_ENST00000361302.3_Silent_p.T1488T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1504					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CAGAACTGACCAATGAGAATG	0.353000													3	56					0.00909568	0.00936097	0.009096	1	0
CCDC91	55297	broad.mit.edu	37	12	28458663	28458663	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:28458663C>G	ENST00000545336.1	+	7	610	c.191C>G	c.(190-192)tCt>tGt	p.S64C	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.S64C|CCDC91_ENST00000381256.1_Missense_Mutation_p.S64C|CCDC91_ENST00000539107.1_Missense_Mutation_p.S64C|CCDC91_ENST00000306172.5_Missense_Mutation_p.S34C			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	64					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGCCTCTCTTCTGATGCCATT	0.393000													34	136					0	0	0.013726	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103292	39103292	+	Silent	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39103292C>A	ENST00000591517.1	-	9	652	c.624G>T	c.(622-624)ctG>ctT	p.L208L	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.L204L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.L208L|MAP4K1_ENST00000586296.1_Silent_p.L208L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	208	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTAGCTCGGCCAGTTCGATGG	0.632000													14	47					6.72482e-11	7.58462e-11	0.003163	1	0
CFAP221	200373	broad.mit.edu	37	2	120373262	120373262	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:120373262C>T	ENST00000602047.1	+	15	1641	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.R463W			Q4G0U5	PCDP1_HUMAN		463						cilium	calmodulin binding					Colorectal(110;0.196)					GGCACAAAAACGGTTTCAACA	0.388000													3	24					0	0	0.004672	0	0
CACNA1D	776	broad.mit.edu	37	3	53769529	53769529	+	Splice_Site	SNP	C	C	T	rs145327253		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53769529C>T	ENST00000288139.3	+	21	2928	c.2811_splice	c.e21+1	p.T937_splice	CACNA1D_ENST00000422281.2_Splice_Site_p.T917_splice|CACNA1D_ENST00000350061.5_Splice_Site_p.T917_splice	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	917					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCCGGAACACGGTAAGTCCC	0.622000													4	26					0	0	0.001984	0	0
TARS	6897	broad.mit.edu	37	5	33453512	33453512	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:33453512C>G	ENST00000265112.3	+	4	759	c.448C>G	c.(448-450)Cag>Gag	p.Q150E	TARS_ENST00000502553.1_Missense_Mutation_p.Q150E|TARS_ENST00000455217.2_Missense_Mutation_p.Q183E|TARS_ENST00000541634.1_Missense_Mutation_p.Q46E|TARS_ENST00000414361.2_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	150					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGAGGAAGCTCAGGCAGTAAG	0.438000													28	84					0	0	0.004656	0	0
SMEK2	57223	broad.mit.edu	37	2	55825607	55825607	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:55825607G>A	ENST00000272313.5	-	4	1193	c.866C>T	c.(865-867)tCt>tTt	p.S289F	SMEK2_ENST00000407823.3_Missense_Mutation_p.S289F|SMEK2_ENST00000345102.5_Missense_Mutation_p.S289F	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	289						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGTAAGAGTAGAAAGAAAATT	0.343000													9	37					0	0	0.008291	0	0
CTCF	10664	broad.mit.edu	37	16	67655479	67655479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67655479C>T	ENST00000264010.4	+	7	1786	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.R120*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	448			R -> Q (in a Wilms' tumor).		chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R448*(3)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTCATAGCCCGAAAAAGTGA	0.368000													5	25					0	0	0.000602	0	0
MYRF	745	broad.mit.edu	37	11	61541579	61541579	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:61541579C>T	ENST00000278836.5	+	8	1352	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000265460.5_Missense_Mutation_p.T410M|MYRF_ENST00000327797.1_Missense_Mutation_p.T46M	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TACGTCAAGACGCCCGAGGGC	0.587000													5	18					0	0	0.000602	0	0
NOD2	64127	broad.mit.edu	37	16	50745595	50745595	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:50745595C>T	ENST00000300589.2	+	4	1878	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	591	NACHT.				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)				CCAAAGGTGTCGTGCCAGGGA	0.577000													5	21					0	0	0.000602	0	0
PCNT	5116	broad.mit.edu	37	21	47831965	47831965	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:47831965T>A	ENST00000359568.5	+	28	6085	c.5978T>A	c.(5977-5979)gTt>gAt	p.V1993D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1993					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTGGAGCCGGTTGTCCCTGAC	0.627000													9	34					0	0	0.008291	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874057	87874057	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:87874057C>T	ENST00000261622.4	-	4	858	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	265					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		ATCATTTCCTCTGTGACGAAA	0.423000													10	66					0	0	0.013537	0	0
PGBD4	161779	broad.mit.edu	37	15	34395158	34395158	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:34395158G>A	ENST00000397766.2	+	1	885	c.426G>A	c.(424-426)tcG>tcA	p.S142S		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	142										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATTTTCGCGAATGGATA	0.413000													18	61					0	0	0.007413	0	0
FAM13C	220965	broad.mit.edu	37	10	61112119	61112119	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112119C>T	ENST00000277705.6	-	3	336	c.235G>A	c.(235-237)Gta>Ata	p.V79I	FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.V79I|FAM13C_ENST00000435852.2_Missense_Mutation_p.V79I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V79I|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.V79I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V79I			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	79										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCGCAATACGCTGTCCACC	0.607000													5	28					0	0	0.000602	0	0
FNBP1	23048	broad.mit.edu	37	9	132687418	132687418	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:132687418C>T	ENST00000420781.1	-	9	1026	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	FNBP1_ENST00000446176.2_Missense_Mutation_p.E270K|FNBP1_ENST00000355681.3_Missense_Mutation_p.E270K|FNBP1_ENST00000478129.1_5'UTR			Q96RU3	FNBP1_HUMAN	formin binding protein 1	270	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTATAAGCTTCTATTACCAGC	0.403000			T	MLL	AML								13	46					0	0	0.013537	0	0
SNHG5	387066	broad.mit.edu	37	6	86387079	86387079	+	RNA	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:86387079C>T	ENST00000384338.1	-	0	7					NR_002743.2																						ATAAGATCATCACAGATAAGA	0.353000													20	43					0	0	0.007413	0	0
TRPM6	140803	broad.mit.edu	37	9	77343238	77343238	+	Missense_Mutation	SNP	G	G	A	rs143161006		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:77343238G>A	ENST00000451710.3	-	37	6101	c.5864C>T	c.(5863-5865)cCg>cTg	p.P1955L	TRPM6_ENST00000449912.2_Missense_Mutation_p.P1946L|TRPM6_ENST00000376871.3_Missense_Mutation_p.P788L|TRPM6_ENST00000376872.3_Missense_Mutation_p.P906L|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1946L|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1951L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1951	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAATTGGCCGGTCCAAACAC	0.428000													12	33					0	0	0.013537	0	0
CASP8	841	broad.mit.edu	37	2	202131210	202131210	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:202131210A>G	ENST00000358485.4	+	2	374	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	CASP8_ENST00000264275.5_Start_Codon_SNP_p.M1V|CASP8_ENST00000392259.2_Start_Codon_SNP_p.M1V|CASP8_ENST00000392258.3_Start_Codon_SNP_p.M1V|CASP8_ENST00000392266.3_Start_Codon_SNP_p.M1V|CASP8_ENST00000264274.9_Start_Codon_SNP_p.M1V|CASP8_ENST00000323492.7_Start_Codon_SNP_p.M1V|CASP8_ENST00000432109.2_Splice_Site_p.M1_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	1	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTTAAAAAGATGGACTTCAG	0.398000										HNSCC(4;0.00038)			8	28					0	0	0.003080	0	0
OTOA	146183	broad.mit.edu	37	16	21698871	21698871	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:21698871C>T	ENST00000388958.3	+	7	538	c.537C>T	c.(535-537)atC>atT	p.I179I	OTOA_ENST00000388956.4_Silent_p.I100I|OTOA_ENST00000286149.4_Silent_p.I179I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	179					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTGTGGAGATCCTGGGCAAGG	0.592000													9	43					0	0	0.006214	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396723	38396723	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:38396723C>T	ENST00000377698.3	+	2	1131	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	326					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCGGACCTTCGTGGAAGAAT	0.577000													8	33					0	0	0.003080	0	0
PML	5371	broad.mit.edu	37	15	74328369	74328369	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:74328369C>G	ENST00000395132.2	+	5	1372	c.1276C>G	c.(1276-1278)Ctt>Gtt	p.L426V	PML_ENST00000569965.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000354026.6_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000268059.6_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron	NM_033247.2	NP_150250.2	P29590	PML_HUMAN	promyelocytic leukemia	425					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						agcccatgctcttacaggccc	0.567000			T	"""RARA, PAX5"""	"""APL, ALL"""								57	252					0	0	0.014410	0	0
ACAN	176	broad.mit.edu	37	15	89400924	89400924	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:89400924G>A	ENST00000439576.2	+	12	5482	c.5108G>A	c.(5107-5109)aGt>aAt	p.S1703N	ACAN_ENST00000559004.1_Missense_Mutation_p.S1703N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1703N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1703N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1703					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGACATTAGTGGGAGAGCT	0.537000													5	172					0	0	0.000602	0	0
CACNA1D	776	broad.mit.edu	37	3	53839052	53839052	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53839052C>G	ENST00000288139.3	+	46	5806	c.5688C>G	c.(5686-5688)atC>atG	p.I1896M	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1852M|CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1876M|CACNA1D_ENST00000544977.1_Missense_Mutation_p.I255M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1876					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGAAACATCGACTCTGAGA	0.537000													15	36					0	0	0.003163	0	0
LOC283683	283683	broad.mit.edu	37	15	23108883	23108883	+	RNA	SNP	T	T	C	rs3178813	by1000genomes	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:23108883T>C	ENST00000557922.1	-	0	246					NR_040057.1																						TTCGACACTATCATCTGCAGA	0.378000													4	49					0	0	0.000602	0	0
PHGDH	26227	broad.mit.edu	37	1	120283059	120283059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:120283059G>A	ENST00000369407.3	+	8	2401	c.894G>A	c.(892-894)tgG>tgA	p.W298*	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Nonsense_Mutation_p.W332*			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	332					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCAAGCCTTGGATTGGTCTGG	0.607000													8	7					0	0	0.003080	0	0
HECTD1	25831	broad.mit.edu	37	14	31588931	31588931	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:31588931C>G	ENST00000399332.1	-	29	5868	c.5380G>C	c.(5380-5382)Gaa>Caa	p.E1794Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1794Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1794					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTGGTATTTCTAGATCAGTT	0.378000													19	51					0	0	0.012319	0	0
GCM2	9247	broad.mit.edu	37	6	10876748	10876748	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:10876748G>C	ENST00000379491.4	-	3	533	c.386C>G	c.(385-387)cCt>cGt	p.P129R	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	129					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCCTCGACAAGGAATCAACTC	0.493000													16	18					0	0	0.006122	0	0
PHF6	84295	broad.mit.edu	37	X	133549100	133549100	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:133549100G>A	ENST00000332070.3	+	8	986	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PHF6_ENST00000370803.3_Missense_Mutation_p.D262N|PHF6_ENST00000370800.4_Missense_Mutation_p.D263N|PHF6_ENST00000416404.2_Missense_Mutation_p.D228N|PHF6_ENST00000394292.1_Missense_Mutation_p.D263N|PHF6_ENST00000370799.1_Missense_Mutation_p.D263N	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGAATTTGGAGACTTTGATAT	0.338000			"""F, N, Splice, Mis"""		ETP ALL								13	17					0	0	0.002450	0	0
LMO7	4008	broad.mit.edu	37	13	76287355	76287355	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:76287355G>T	ENST00000357063.3	+	3	1523	c.263G>T	c.(262-264)cGa>cTa	p.R88L	LMO7_ENST00000341547.4_Missense_Mutation_p.R88L|LMO7_ENST00000377534.3_Missense_Mutation_p.R88L|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	88	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATTTTCGAGCCTCTCTA	0.343000													4	31					2.56e-06	2.76122e-06	0.009096	1	0
PHF20	51230	broad.mit.edu	37	20	34430552	34430552	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:34430552C>G	ENST00000374012.3	+	3	270	c.141C>G	c.(139-141)ttC>ttG	p.F47L	PHF20_ENST00000439301.1_Missense_Mutation_p.F47L|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATCCATTTCAAGCGTTGGA	0.423000													14	79					0	0	0.003163	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831567	2831567	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:2831567C>T	ENST00000442312.2	+	8	1197	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	SH3BP2_ENST00000452765.2_Missense_Mutation_p.H312Y|SH3BP2_ENST00000435136.2_Missense_Mutation_p.H312Y|SH3BP2_ENST00000511747.1_Missense_Mutation_p.H312Y|SH3BP2_ENST00000503393.2_Missense_Mutation_p.H369Y|SH3BP2_ENST00000356331.5_Missense_Mutation_p.H312Y	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	312					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GACCCCTGGCCACGGGGCCTG	0.672000									Cherubism				15	72					0	0	0.003163	0	0
SPEG	10290	broad.mit.edu	37	2	220344508	220344508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220344508C>T	ENST00000312358.7	+	24	5221	c.5089C>T	c.(5089-5091)Cgg>Tgg	p.R1697W	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1697	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCACAGATCCGGGCCTATAT	0.602000													5	30					0	0	0.001168	0	0
CD163L1	283316	broad.mit.edu	37	12	7526210	7526210	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:7526210C>T	ENST00000313599.3	-	14	3493	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1146K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1156K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1146	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTTTCAGTTTCACTGTAGAGC	0.458000													26	179					0	0	0.006320	0	0
MAPK6	5597	broad.mit.edu	37	15	52356502	52356502	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:52356502G>A	ENST00000261845.5	+	6	2278	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	491					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGATAAGAAAGGCAAATCAAA	0.383000													5	21					0	0	0.001168	0	0
SLC25A10	1468	broad.mit.edu	37	17	79686897	79686897	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:79686897G>A	ENST00000331531.5	+	10	889	c.769G>A	c.(769-771)Ggg>Agg	p.G257R	SLC25A10_ENST00000350690.5_Missense_Mutation_p.G248R|SLC25A10_ENST00000571730.1_Missense_Mutation_p.G403R|SLC25A10_ENST00000545862.1_Missense_Mutation_p.G205R|SLC25A10_ENST00000541223.1_Missense_Mutation_p.G403R	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	248					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.G248W(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGCGAAGCTCGGGCCTCTGGC	0.577000													57	201					0	0	0.014410	0	0
SHPRH	257218	broad.mit.edu	37	6	146247400	146247400	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:146247400C>T	ENST00000367503.3	-	16	3659	c.3261G>A	c.(3259-3261)ttG>ttA	p.L1087L	SHPRH_ENST00000275233.7_Silent_p.L1078L|SHPRH_ENST00000367505.2_Silent_p.L1078L|SHPRH_ENST00000438092.2_Silent_p.L1087L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1078					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGCTATCAACAATTCCATCA	0.383000													15	73					0	0	0.004007	0	0
ZCCHC10	54819	broad.mit.edu	37	5	132334527	132334527	+	Silent	SNP	G	G	C	rs55645444		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:132334527G>C	ENST00000324170.3	-	4	327	c.261C>G	c.(259-261)acC>acG	p.T87T	ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509437.1_Silent_p.T109T|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513848.1_Silent_p.T73T|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000355372.2_Intron	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	109							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTGGAACTGGTTACACTCT	0.383000													11	51					0	0	0.002450	0	0
LARGE	9215	broad.mit.edu	37	22	33733713	33733713	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:33733713C>T	ENST00000354992.2	-	11	1777	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	LARGE_ENST00000402320.1_Intron|LARGE_ENST00000452586.2_Silent_p.L201L|LARGE_ENST00000397394.2_Silent_p.L402L|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000437602.2_Silent_p.L402L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	402					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCAGGAAGGTCAGGTAGAGGT	0.527000													15	25					0	0	0.002450	0	0
CSMD2	114784	broad.mit.edu	37	1	34003072	34003072	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:34003072C>G	ENST00000373381.4	-	61	9945	c.9769G>C	c.(9769-9771)Gat>Cat	p.D3257H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3235						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATGTCCCATCTGACTGGCAA	0.607000													15	110					0	0	0.004007	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415859	5415859	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:5415859G>A	ENST00000341928.2	-	13	2365	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	675	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTAGGGAGGCGCTCAAGGAGG	0.577000													10	37					0	0	0.008291	0	0
TMEM59	9528	broad.mit.edu	37	1	54513022	54513022	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:54513022C>G	ENST00000234831.5	-	2	462	c.213G>C	c.(211-213)caG>caC	p.Q71H	TMEM59_ENST00000371337.3_Missense_Mutation_p.Q71H|TMEM59_ENST00000371348.1_5'UTR|TMEM59_ENST00000371341.1_5'UTR	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	71						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCAACCTCTCTGACATGCGT	0.388000													11	54					0	0	0.010729	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589696	47589696	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:47589696G>C	ENST00000253048.5	-	6	852	c.815C>G	c.(814-816)tCt>tGt	p.S272C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	272	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCCATAGAGCCTCTGCC	0.687000													10	52					0	0	0.013537	0	0
CCNA1	8900	broad.mit.edu	37	13	37007189	37007189	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:37007189A>G	ENST00000418263.1	+	2	475	c.125A>G	c.(124-126)gAa>gGa	p.E42G	CCNA1_ENST00000449823.1_5'UTR|CCNA1_ENST00000255465.4_Missense_Mutation_p.E43G|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_5'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	43					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGGAGTCTGAAGCAATGCAC	0.587000													21	87					0	0	0.010504	0	0
BTRC	8945	broad.mit.edu	37	10	103190136	103190136	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103190136C>G	ENST00000370187.3	+	2	201	c.83C>G	c.(82-84)tCc>tGc	p.S28C	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.S13C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGGCTGCTCCAGCCTGGCG	0.537000													3	31					0	0	0.004672	0	0
PAQR5	54852	broad.mit.edu	37	15	69689821	69689821	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:69689821A>G	ENST00000340965.3	+	7	1195	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.Q176R|PAQR5_ENST00000561153.1_Missense_Mutation_p.Q176R	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	176					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTTGAAATCCAGAAGCCCAGA	0.507000													8	62					0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578433G>C	ENST00000420246.2	-	5	629	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(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)		CATGTGCTGTGACTGCTTGTA	0.632000		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)			12	44					0	0	0.001855	0	0
SMC1A	8243	broad.mit.edu	37	X	53439161	53439161	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53439161G>C	ENST00000322213.4	-	6	1024	c.897C>G	c.(895-897)atC>atG	p.I299M	SMC1A_ENST00000375340.6_Intron|SMC1A_ENST00000463684.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	299					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCTTGGCTTTGATGTACTGAG	0.502000													12	15					0	0	0.003163	0	0
DSG1	1828	broad.mit.edu	37	18	28923432	28923432	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:28923432C>T	ENST00000257192.4	+	12	1919	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	569					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTGATGATCTGTTGTGATT	0.438000													29	129					0	0	0.009535	0	0
GNAT1	2779	broad.mit.edu	37	3	50230738	50230738	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:50230738G>C	ENST00000232461.3	+	3	304	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	GNAT1_ENST00000433068.1_Missense_Mutation_p.E64Q	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	64					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGAGTGCCTCGAGTTTATCGC	0.587000											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	50					0	0	0.008871	0	0
S100A3	6274	broad.mit.edu	37	1	153520231	153520231	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520231G>C	ENST00000368713.3	-	3	429	c.233C>G	c.(232-234)tCa>tGa	p.S78*	S100A3_ENST00000368712.1_Nonsense_Mutation_p.S78*|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	78	EF-hand 2.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGGCAAGTGAGCGCACATA	0.562000													23	102					0	0	0.014323	0	0
MCM9	254394	broad.mit.edu	37	6	119245037	119245037	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:119245037G>C	ENST00000316316.6	-	3	846	c.560C>G	c.(559-561)tCa>tGa	p.S187*	MCM9_ENST00000316068.3_Nonsense_Mutation_p.S187*	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.S187*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGACAAGCCTGAGAGGCAAGT	0.418000													14	57					0	0	0.001855	0	0
AP1B1	162	broad.mit.edu	37	22	29738276	29738276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:29738276G>A	ENST00000357586.2	-	12	1720	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q512*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	512					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACCCACCTGAGTGGCCAAA	0.592000													3	18					0	0	0.004672	0	0
CREB5	9586	broad.mit.edu	37	7	28844023	28844023	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:28844023C>G	ENST00000357727.2	+	8	1300	c.910C>G	c.(910-912)Caa>Gaa	p.Q304E	CREB5_ENST00000409603.1_Missense_Mutation_p.Q271E|CREB5_ENST00000396298.2_Missense_Mutation_p.Q165E|CREB5_ENST00000396300.2_Missense_Mutation_p.Q297E|CREB5_ENST00000396299.2_Missense_Mutation_p.Q271E	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	304					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						tcctcaccctcaaccccatca	0.602000													11	25					0	0	0.008291	0	0
MYO16	23026	broad.mit.edu	37	13	109496715	109496715	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:109496715C>T	ENST00000356711.2	+	10	1182	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	MYO16_ENST00000251041.5_Silent_p.A352A|MYO16_ENST00000357550.2_Silent_p.A352A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	352					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACCAATTGCCAAGCAAGACA	0.378000													6	42					0	0	0.001168	0	0
SYT9	143425	broad.mit.edu	37	11	7324466	7324466	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:7324466C>T	ENST00000318881.6	+	2	579	c.342C>T	c.(340-342)gaC>gaT	p.D114D	SYT9_ENST00000396716.2_Silent_p.D82D	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	114						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGTGAGGACTTCCTAGATC	0.577000													15	49					0	0	0.002450	0	0
FGD6	55785	broad.mit.edu	37	12	95501371	95501371	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:95501371G>C	ENST00000343958.4	-	12	3524	c.3301C>G	c.(3301-3303)Cgg>Ggg	p.R1101G	FGD6_ENST00000549499.1_Missense_Mutation_p.R1101G|FGD6_ENST00000546711.1_Missense_Mutation_p.R1101G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1101	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCACTTTCCGAGACAGCTTC	0.418000													9	37					0	0	0.004482	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043109	153043109	+	Silent	SNP	C	C	T	rs143849195	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153043109C>T	ENST00000341611.2	-	2	269	c.207G>A	c.(205-207)ccG>ccA	p.P69P	SPRR2B_ENST00000368752.4_Silent_p.P69P|SPRR2B_ENST00000368755.2_Silent_p.P69P	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532000													22	114					0	0	0.004656	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025708	176025708	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:176025708C>G	ENST00000303991.4	-	2	1305	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	376						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGTCCATCTTTCCCAGGA	0.542000													9	48					0	0	0.008291	0	0
CLCNKA	1187	broad.mit.edu	37	1	16359745	16359745	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16359745G>C	ENST00000375692.1	+	20	2135	c.2007G>C	c.(2005-2007)tgG>tgC	p.W669C	CLCNKA_ENST00000420078.1_Missense_Mutation_p.W669C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.W670C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.W627C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	670	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCGTGTCCTGGGTGGAGGTAC	0.617000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	136					0	0	0.007291	0	0
CETP	1071	broad.mit.edu	37	16	57015105	57015105	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:57015105G>C	ENST00000200676.3	+	12	1312	c.1182G>C	c.(1180-1182)aaG>aaC	p.K394N	CETP_ENST00000379780.2_Missense_Mutation_p.K334N|CETP_ENST00000566128.1_Missense_Mutation_p.K329N	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	394					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	p.K394N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCTATTCTAAGAAAAAGCTCT	0.537000													21	65					0	0	0.014323	0	0
SYNE2	23224	broad.mit.edu	37	14	64560106	64560106	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:64560106G>A	ENST00000357395.3	+	62	12315	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	SYNE2_ENST00000344113.4_Missense_Mutation_p.E4006K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E640K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4039K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E391K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4006K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4006					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGAAATAGAAAATTTGAA	0.343000													32	60					0	0	0.009535	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209194623	209194623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:209194623G>C	ENST00000264380.4	+	22	3935	c.3777G>C	c.(3775-3777)gaG>gaC	p.E1259D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1259					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATTTTTAGAGAGATACTGTT	0.318000													7	28					0	0	0.004482	0	0
FAM13C	220965	broad.mit.edu	37	10	61112150	61112150	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112150C>T	ENST00000277705.6	-	3	305	c.204G>A	c.(202-204)caG>caA	p.Q68Q	FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000442566.3_Silent_p.Q68Q|FAM13C_ENST00000435852.2_Silent_p.Q68Q|FAM13C_ENST00000373868.2_Silent_p.Q68Q|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000422313.2_Silent_p.Q68Q|FAM13C_ENST00000419214.2_Silent_p.Q68Q			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	68										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTCTACATTCTGCTGCTGCG	0.562000													3	19					0	0	0.004672	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948554	68948554	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68948554C>G	ENST00000456315.2	-	8	1051	c.937G>C	c.(937-939)Gat>Cat	p.D313H	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	313	Rho-GAP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTGGATCTATCTGAAACTGTG	0.328000													13	66					0	0	0.013537	0	0
EIF2S1	1965	broad.mit.edu	37	14	67850070	67850070	+	Silent	SNP	G	G	A	rs55950335		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:67850070G>A	ENST00000256383.4	+	8	1322	c.861G>A	c.(859-861)gcG>gcA	p.A287A	EIF2S1_ENST00000466499.2_Silent_p.A287A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	287						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		CTGAACTTGCGAGGCAGATGG	0.398000													4	35					0	0	0.009096	0	0
CD1E	913	broad.mit.edu	37	1	158325689	158325689	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:158325689C>T	ENST00000444681.2	+	3	694	c.401C>T	c.(400-402)tCa>tTa	p.S134L	CD1E_ENST00000368157.1_Missense_Mutation_p.S44L|CD1E_ENST00000368156.1_Missense_Mutation_p.S143L|CD1E_ENST00000368160.3_Missense_Mutation_p.S233L|CD1E_ENST00000452291.2_Missense_Mutation_p.S44L|CD1E_ENST00000368155.3_Missense_Mutation_p.S143L|CD1E_ENST00000368154.1_Missense_Mutation_p.S44L|CD1E_ENST00000368161.3_Missense_Mutation_p.S233L|CD1E_ENST00000368166.3_Missense_Mutation_p.S44L|CD1E_ENST00000434258.1_Missense_Mutation_p.S231L|CD1E_ENST00000368167.3_Missense_Mutation_p.S233L|CD1E_ENST00000368165.3_Missense_Mutation_p.S143L|CD1E_ENST00000368164.3_Missense_Mutation_p.S44L|CD1E_ENST00000368163.3_Missense_Mutation_p.S233L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	233					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGCCATGTCTCAGGATTCTAC	0.587000													7	55					0	0	0.001984	0	0
CUL9	23113	broad.mit.edu	37	6	43173028	43173028	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43173028G>A	ENST00000252050.4	+	24	4744	c.4660G>A	c.(4660-4662)Gac>Aac	p.D1554N	CUL9_ENST00000372647.2_Missense_Mutation_p.D1554N|CUL9_ENST00000354495.3_Missense_Mutation_p.D1444N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1554					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGTACATTGACCAACAGAT	0.567000													43	215					0	0	0.010771	0	0
CCDC129	223075	broad.mit.edu	37	7	31683179	31683179	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:31683179G>T	ENST00000319386.3	+	11	2744	c.1751G>T	c.(1750-1752)gGa>gTa	p.G584V	CCDC129_ENST00000409210.1_Missense_Mutation_p.G640V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G758V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G732V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	732										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCCCAGAGGAACATCTTTA	0.507000													14	62					4.93089e-13	5.69126e-13	0.002450	1	0
HADHB	3032	broad.mit.edu	37	2	26502945	26502945	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:26502945C>A	ENST00000317799.5	+	10	999	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.P176T|HADHB_ENST00000537713.1_Missense_Mutation_p.P284T|HADHB_ENST00000545822.1_Missense_Mutation_p.P277T	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	299					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCATCAAGCCCTACGGCAC	0.373000													17	81					5.03518e-11	5.705e-11	0.007413	1	0
AGAP1	116987	broad.mit.edu	37	2	236957775	236957775	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:236957775G>A	ENST00000409538.1	+	15	3096	c.2600G>A	c.(2599-2601)gGc>gAc	p.G867D	AGAP1_ENST00000304032.7_Missense_Mutation_p.G655D|AGAP1_ENST00000336665.5_Missense_Mutation_p.G602D|AGAP1_ENST00000428334.2_Missense_Mutation_p.G494D			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	655					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGGAATCTTGGCACCCACCTT	0.557000													3	59					0	0	0.009096	0	0
FAM126B	285172	broad.mit.edu	37	2	201846438	201846438	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846438G>A	ENST00000418596.2	-	12	1335	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	383						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCCTTGGCTGAACGCCCAGT	0.493000													7	34					0	0	0.004482	0	0
GTF2I	2969	broad.mit.edu	37	7	74114630	74114630	+	Nonsense_Mutation	SNP	C	C	T	rs1064765	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:74114630C>T	ENST00000324896.4	+	5	816	c.427C>T	c.(427-429)Cga>Tga	p.R143*	GTF2I_ENST00000353920.4_Nonsense_Mutation_p.R143*|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Nonsense_Mutation_p.R143*|GTF2I_ENST00000443166.1_Nonsense_Mutation_p.R143*|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Nonsense_Mutation_p.R143*	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGATGCTGCGAGACCAGTC	0.478000													11	72					0	0	0.008291	0	0
PHF1	5252	broad.mit.edu	37	6	33382536	33382536	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33382536T>A	ENST00000374516.3	+	11	1250	c.979T>A	c.(979-981)Tgt>Agt	p.C327S	PHF1_ENST00000374512.3_Missense_Mutation_p.C327S	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	327					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GAAGAGGAAATGTTTGTTTGG	0.512000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	115					0	0	0.004656	0	0
IFIT3	3437	broad.mit.edu	37	10	91099031	91099031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:91099031C>T	ENST00000371818.4	+	2	799	c.619C>T	c.(619-621)Caa>Taa	p.Q207*	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Nonsense_Mutation_p.Q207*|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	207					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TCCTGATAACCAATACGTCAA	0.453000													11	33					0	0	0.010729	0	0
AHSA1	10598	broad.mit.edu	37	14	77930945	77930945	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:77930945C>A	ENST00000216479.3	+	5	637	c.477C>A	c.(475-477)ttC>ttA	p.F159L	AHSA1_ENST00000535854.2_Missense_Mutation_p.F159L|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	159					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTTCAGAGTTCACCCAGGGCA	0.458000													13	25					5.50884e-06	5.86501e-06	0.013537	1	0
PPP4C	5531	broad.mit.edu	37	16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:30093814G>A	ENST00000279387.7	+	4	328	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGTGCGGCGACATCCATGG	0.522000													4	45					0	0	0.009096	0	0
PHGDH	26227	broad.mit.edu	37	1	120283058	120283058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:120283058G>A	ENST00000369407.3	+	8	2400	c.893G>A	c.(892-894)tGg>tAg	p.W298*	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Nonsense_Mutation_p.W332*			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	332					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ACCAAGCCTTGGATTGGTCTG	0.607000													8	7					0	0	0.003080	0	0
FGF8	2253	broad.mit.edu	37	10	103530279	103530279	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103530279G>A	ENST00000347978.2	-	5	624	c.455C>T	c.(454-456)gCc>gTc	p.A152V	FGF8_ENST00000344255.3_Missense_Mutation_p.A170V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.A141V|FGF8_ENST00000320185.2_Missense_Mutation_p.A181V	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	170					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCGGGTGAAGGCCATGTACCA	0.632000													9	36					0	0	0.004482	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356976	37356976	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:37356976C>T	ENST00000217420.1	+	2	1535	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	424					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTACAGCGGCGACGGGCGCC	0.632000													8	19					0	0	0.003080	0	0
RIC8B	55188	broad.mit.edu	37	12	107236437	107236437	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:107236437G>C	ENST00000392837.4	+	5	1058	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	RIC8B_ENST00000392839.2_Missense_Mutation_p.E303Q|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.E263Q			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	303					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GTTAACCCATGAAGAAACAGC	0.363000													8	39					0	0	0.004482	0	0
LMF2	91289	broad.mit.edu	37	22	50941937	50941937	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:50941937G>A	ENST00000216080.5	-	14	2100	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	LMF2_ENST00000380796.3_Silent_p.V556V|LMF2_ENST00000474879.2_Silent_p.V669V			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	669						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCCCGCTGACTGGTGCCA	0.672000													9	24					0	0	0.006214	0	0
PFAS	5198	broad.mit.edu	37	17	8159892	8159892	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:8159892G>A	ENST00000314666.6	+	8	1005	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	291					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACCCCACACGGCCAAGCCGC	0.547000													7	27					0	0	0.004482	0	0
UBR5	51366	broad.mit.edu	37	8	103305964	103305964	+	Silent	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:103305964G>C	ENST00000520539.1	-	34	5064	c.4458C>G	c.(4456-4458)gtC>gtG	p.V1486V	UBR5_ENST00000521922.1_Silent_p.V1480V|UBR5_ENST00000220959.4_Silent_p.V1486V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1486					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCCATTCTGACAGGAACAA	0.463000													4	21					0	0	0.000602	0	0
IGSF8	93185	broad.mit.edu	37	1	160063016	160063016	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160063016C>T	ENST00000368086.1	-	4	1226	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	IGSF8_ENST00000314485.7_Missense_Mutation_p.R337H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	337	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCAGCATGACGGCCTGCTGG	0.667000													8	25					0	0	0.003080	0	0
S100A3	6274	broad.mit.edu	37	1	153520180	153520180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520180G>C	ENST00000368713.3	-	3	480	c.284C>G	c.(283-285)tCa>tGa	p.S95*	S100A3_ENST00000368712.1_Nonsense_Mutation_p.S95*|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	95							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGGGCTCTGAGGGGCAGTC	0.627000													20	84					0	0	0.012319	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015468	21015468	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:21015468G>C	ENST00000381545.3	+	7	823	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E202Q|LST3_ENST00000540229.1_Missense_Mutation_p.E202Q|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E202Q	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	202					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTTGCAAAAGAAGGACATTC	0.353000													8	42					0	0	0.004482	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727688	154727688	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:154727688C>T	ENST00000607772.1	-	13	2012	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CNKSR3_ENST00000479339.1_Missense_Mutation_p.E410K|CNKSR3_ENST00000433165.2_Missense_Mutation_p.E315K	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	490	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGATGCCGCTCGGTCGTGGGT	0.582000													15	77					0	0	0.004007	0	0
PADI4	23569	broad.mit.edu	37	1	17674531	17674531	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:17674531C>G	ENST00000375448.4	+	10	1169	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	381					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGTTTCCCATCAAACGCGTGA	0.587000													7	23					0	0	0.004482	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	45					0	0	0.009096	0	0
IGSF3	3321	broad.mit.edu	37	1	117122269	117122270	+	In_Frame_Ins	INS	-	-	GTC	rs55719879		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:117122269_117122270insGTC	ENST00000369486.3	-	10	3843_3844	c.3078_3079insGAC	c.(3076-3081)gacaac>gaGACcaac	p.1026_1026D>ET	IGSF3_ENST00000369483.1_In_Frame_Ins_p.1046_1046D>ET|IGSF3_ENST00000318837.6_In_Frame_Ins_p.1046_1046D>ET	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1026	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGCTCTGTTGGgtcgtcgtcgt	0.639													9	27	---	---	---	---					
THEM4	117145	broad.mit.edu	37	1	151861698	151861699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:151861698_151861699insC	ENST00000368814.3	-	3	786_787	c.437_438insG	c.(436-438)gccfs	p.A146fs	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	146					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGTGGTCCTTCCAGGTA	0.416													18	66	---	---	---	---					
FOSL2	2355	broad.mit.edu	37	2	28634936	28634949	+	Frame_Shift_Del	DEL	CCCCAGCCCCTGGG	CCCCAGCCCCTGGG	-	rs112106981		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:28634936_28634949delCCCCAGCCCCTGGG	ENST00000264716.4	+	4	1465_1478	c.602_615delCCCCAGCCCCTGGG	c.(601-615)cfs	p.PPAPG201fs	FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PPAPG162fs|FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PPAPG193fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	201					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CGCCGATCGCCCCCAGCCCCTGGGCTGCAGCCCA	0.654													17	84	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187532709	187532710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:187532709_187532710insG	ENST00000441802.2	-	14	9892_9893	c.9683_9684insC	c.(9682-9684)cgtfs	p.R3228fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3228	Cadherin 29.				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						ACTCAAACACAGGGGGGTTGTC	0.470										HNSCC(5;0.00058)			15	28	---	---	---	---					
ZBTB22	9278	broad.mit.edu	37	6	33283438	33283442	+	Frame_Shift_Del	DEL	AAGGG	AAGGG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33283438_33283442delAAGGG	ENST00000431845.2	-	2	1403_1407	c.1252_1256delCCCTT	c.(1252-1257)gfs	p.PL418fs	ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.PL418fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGCATGTCCAAGGGAAGGAGCGGT	0.620													76	191	---	---	---	---					
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)del	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													2	4	---	---	---	---					
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													7	97	---	---	---	---					
CYLC2	1539	broad.mit.edu	37	9	105767883	105767894	+	In_Frame_Del	DEL	AAGAAGGATGCA	AAGAAGGATGCA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:105767883_105767894delAAGAAGGATGCA	ENST00000374798.3	+	5	1040_1051	c.970_981delAAGAAGGATGCA	c.(970-981)del	p.KKDA328del	CYLC2_ENST00000487798.1_In_Frame_Del_p.KKDA328del	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	328	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				gaaaaatgctaagaaggatgcaaagaaggatg	0.387													5	9	---	---	---	---					
DBH	1621	broad.mit.edu	37	9	136522324	136522326	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:136522324_136522326delCAA	ENST00000393056.2	+	11	1707_1709	c.1695_1697delCAA	c.(1693-1698)tgc>tg	p.CN565del	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	565					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)	CCATGCACTGCAACAAGTCCTCA	0.640													9	50	---	---	---	---					
AP5B1	91056	broad.mit.edu	37	11	65545479	65545480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:65545479_65545480insG	ENST00000532090.2	-	2	2694_2695	c.2484_2485insC	c.(2482-2487)tagtgtfs	p.*C828fs		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	771							protein binding			lung(1)	1						ATTGCTACACAGTAGCTGGTAG	0.658													12	14	---	---	---	---					
SELPLG	6404	broad.mit.edu	37	12	109017442	109017471	+	In_Frame_Del	DEL	AGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCTTCCATGGCTGCTGGTGC	-	rs149850567	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:109017442_109017471delAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	ENST00000388962.3	-	3	742_771	c.583_612delGCACCAGCAGCCATGGAAGCACAGACCACT	c.(583-612)del	p.APAAMEAQTT195del	SELPLG_ENST00000550948.1_In_Frame_Del_p.APAAMEAQTT205del|SELPLG_ENST00000228463.6_In_Frame_Del_p.APAAMEAQTT221del	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	205	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGCAGTGGTCTGT	0.613													42	21	---	---	---	---					
RAN	5901	broad.mit.edu	37	12	131359130	131359133	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:131359130_131359133delTTAC	ENST00000543796.1	+	5	545_548	c.287_290delTTAC	c.(286-291)gtfs	p.VT96fs	RAN_ENST00000392369.2_Frame_Shift_Del_p.VT96fs|RAN_ENST00000392367.3_Frame_Shift_Del_p.VT113fs|RAN_ENST00000541630.1_Frame_Shift_Del_p.VT8fs|RAN_ENST00000254675.3_Frame_Shift_Del_p.VT8fs			P62826	RAN_HUMAN	RAN, member RAS oncogene family	96					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ACATCGAGAGTTACTTACAAGAAT	0.407													13	54	---	---	---	---					
MEDAG	84935	broad.mit.edu	37	13	31495735	31495736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:31495735_31495736insA	ENST00000380482.4	+	4	864_865	c.539_540insA	c.(538-540)cggfs	p.R180fs	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000451495.2_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		TTCTTCCCCCCAGGAAATGAAG	0.361													14	85	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													4	7	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546141	3546141	+	RNA	DEL	A	A	-	rs74546027		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:3546141delA	ENST00000574423.2	+	0	111																											actccgtctcaaaaaaaaaaa	0.557													2	4	---	---	---	---					
MAZ	4150	broad.mit.edu	37	16	29821436	29821438	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:29821436_29821438delGCG	ENST00000322945.6	+	5	1483_1485	c.1318_1320delGCG	c.(1318-1320)del	p.A448del	MAZ_ENST00000562337.1_In_Frame_Del_p.A143del|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_In_Frame_Del_p.A49del|MAZ_ENST00000563402.1_In_Frame_Del_p.SG96del|MAZ_ENST00000566906.2_Splice_Site_p.G95_splice|MAZ_ENST00000545521.1_In_Frame_Del_p.A425del	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	448	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ggcagcggcagcggcggcagcgg	0.665													18	27	---	---	---	---					
KRT17	3872	broad.mit.edu	37	17	39780380	39780381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:39780380_39780381insG	ENST00000311208.8	-	1	448_449	c.381_382insC	c.(379-384)cccccgfs	p.PP127fs	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	127	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TAGTCACGGGCGGGCCCCGGGG	0.644													15	175	---	---	---	---					
PSMC5	5705	broad.mit.edu	37	17	61908892	61908892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:61908892delT	ENST00000310144.6	+	10	1304	c.996delT	c.(994-996)cafs	p.H332fs	PSMC5_ENST00000375812.4_Frame_Shift_Del_p.H324fs|PSMC5_ENST00000581882.1_Frame_Shift_Del_p.H324fs|PSMC5_ENST00000580864.1_Frame_Shift_Del_p.H324fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	332					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGAAGATTCATTCTCGGAAGA	0.547													19	98	---	---	---	---					
TRMT1	55621	broad.mit.edu	37	19	13220597	13220598	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:13220597_13220598delCA	ENST00000592062.1	-	11	1731_1732	c.1161_1162delTG	c.(1159-1164)tgggfs	p.CG387fs	TRMT1_ENST00000437766.1_Frame_Shift_Del_p.CG387fs|TRMT1_ENST00000221504.8_Frame_Shift_Del_p.CG358fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.CG387fs			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	387							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGTCGTTGCCCACAGTGTTCAC	0.624													9	77	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36214893	36214894	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:36214893_36214894insC	ENST00000222270.7	+	8	3319_3320	c.3319_3320insC	c.(3319-3321)cccfs	p.P1107fs	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Frame_Shift_Ins_p.P1107fs	NM_014727.1	NP_055542.1																					TCGGCGTCGGACCCCCCGAGAA	0.564													16	25	---	---	---	---					
ZNF233	353355	broad.mit.edu	37	19	44778149	44778232	+	In_Frame_Del	DEL	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	-	rs148651556	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENST00000391958.2	+	5	1463_1546	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	c.(1336-1419)del	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG	0.437													22	52	---	---	---	---