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
GPR139	124274	broad.mit.edu	37	16	20043248	20043248	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:20043248G>A	ENST00000570682.1	-	2	1171	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291						integral to membrane|plasma membrane		p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGCGGAACCGCTTGCTGATG	0.502000													56	65					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465957	24465957	+	Missense_Mutation	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:24465957C>A	ENST00000382137.3	-	3	541	c.473G>T	c.(472-474)gGa>gTa	p.G158V	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G158V|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	158	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ACCAGGCTTTCCAATAGGGCC	0.627000													12	38					2.80697e-09	2.87988e-09	1	1	0
ZNF700	90592	broad.mit.edu	37	19	12059661	12059661	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:12059661G>A	ENST00000482090.1	+	3	1186	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZNF700_ENST00000254321.5_Silent_p.G274G|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCACACTGGGGAGAAGCCCT	0.368000													20	50					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211307260	211307260	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:211307260G>A	ENST00000367007.4	-	1	197	c.28C>T	c.(28-30)Cta>Tta	p.L10L	KCNH1_ENST00000271751.4_Silent_p.L10L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	10					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGCCACTAGTCCCCTCCTG	0.607000											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	52					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACGTTCATGTGCTGGATAC	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			83	112					9.90312e-32	1.07171e-31	1	1	0
GLUD2	2747	broad.mit.edu	37	X	120181769	120181769	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:120181769C>T	ENST00000328078.1	+	1	308	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	77					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G77G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCGATCGCGGCGCCAGCATCG	0.642000													46	50					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371999	139371999	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr9:139371999G>A	ENST00000313050.7	-	1	142	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1999					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCAGAACACGCTCCGAGGAT	0.597000													12	23					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142151	54142151	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr8:54142151G>A	ENST00000265572.3	-	4	1146	c.849C>T	c.(847-849)ttC>ttT	p.F283F	OPRK1_ENST00000524278.1_Silent_p.F194F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.F283F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	283					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCAGACGACGAAGACTGCCA	0.577000													20	18					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	rs149522210		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692000													25	31					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48863392	48863392	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:48863392C>T	ENST00000293261.3	-	3	622	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM143_ENST00000436660.2_Silent_p.A102A|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	102						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGGCCGAGAACGCCTCCAAAG	0.592000													19	43					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440525	40440525	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:40440525C>T	ENST00000319592.4	-	4	1095	c.386G>A	c.(385-387)cGt>cAt	p.R129H	RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.R129H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTGAGCTCACGCACTGCGCG	0.627000													33	37					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			546	2133					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069356	153069356	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153069356C>T	ENST00000164640.4	-	8	1953	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	588						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGTCGGGGCCAGCTGCACG	0.756000													4	8					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802177	33802177	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:33802177C>T	ENST00000260908.7	-	4	1649	c.1532G>A	c.(1531-1533)tGt>tAt	p.C511Y	SLFN12L_ENST00000361112.4_Missense_Mutation_p.C540Y|SLFN12L_ENST00000449046.1_Missense_Mutation_p.C542Y	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	543						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGTCATGACACACACTTTTTT	0.393000													34	54					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068385	189068385	+	Silent	SNP	C	C	T	rs145647080	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:189068385C>T	ENST00000332517.3	+	6	1406	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	422	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CATTCTACAACGGGACGGATG	0.517000													60	61					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198676002	198676002	+	Silent	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:198676002A>G	ENST00000367376.2	+	9	990	c.819A>G	c.(817-819)gaA>gaG	p.E273E	PTPRC_ENST00000348564.6_Silent_p.E114E|PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000594404.1_Silent_p.E112E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTTACAGAATGTAAAAATG	0.318000													54	93					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621067	41621067	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:41621067G>A	ENST00000216237.5	+	11	1506	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	450					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTGGCAACTGTCTGTAAGGT	0.602000													20	29					0	0	1	0	0
DDX19A	55308	broad.mit.edu	37	16	70404224	70404224	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:70404224G>A	ENST00000302243.7	+	10	1282	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	DDX19A_ENST00000443119.2_Silent_p.A283A|DDX19A_ENST00000417604.2_Silent_p.A342A	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAGGGCTGCGGTGATTGAGC	0.597000													13	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473345	179473345	+	Missense_Mutation	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179473345T>C	ENST00000589042.1	-	274	52617	c.52393A>G	c.(52393-52395)Aaa>Gaa	p.K17465E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN_ENST00000591111.1_Missense_Mutation_p.K15824E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15824	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGATCTTTAGCCACAAGT	0.363000													8	13					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844257	131844257	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:131844257C>T	ENST00000359827.3	-	25	5597	c.4635G>A	c.(4633-4635)cgG>cgA	p.R1545R	PLXNA4_ENST00000321063.4_Silent_p.R1545R			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCTTTGGGCCGGTGGGAGC	0.557000													5	307					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32834682	32834682	+	Nonsense_Mutation	SNP	G	G	A	rs128626235		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:32834682G>A	ENST00000357033.4	-	6	639	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	145	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGATTGTCGGACCCAGCTC	0.393000													50	80					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184803	130184803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:130184803G>A	ENST00000422113.2	-	2	846	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	174						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)		CGGGTCTCTCGGAAAGCAAAG	0.682000													16	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495965	179495965	+	Missense_Mutation	SNP	T	T	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179495965T>A	ENST00000589042.1	-	237	44034	c.43810A>T	c.(43810-43812)Att>Ttt	p.I14604F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN_ENST00000591111.1_Missense_Mutation_p.I12963F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12963	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTAGAATAACTTCATCT	0.353000													16	26					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39680190	39680190	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39680190C>T	ENST00000361566.3	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCTGGATATGCGCCAGCTGGG	0.592000													31	41					0	0	1	0	0
PCDHGA3	0	broad.mit.edu	37	5	140725296	140725296	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:140725296G>A	ENST00000253812.6	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667000													86	111					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	rs121913428		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241708G>A	ENST00000275493.2	+	18	2333	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			385	1641					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153217982	153217982	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153217982G>A	ENST00000310441.7	-	19	5891	c.4925C>T	c.(4924-4926)gCg>gTg	p.A1642V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1642					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCTGCGCGGCCTGGAG	0.716000													16	16					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73577739	73577739	+	Silent	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr14:73577739C>T	ENST00000261973.7	+	15	2178	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.G631G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	631	Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGCCAGTGGCAATGCAACAC	0.498000													4	31					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394265	164394265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:164394265C>A	ENST00000280605.3	-	1	782	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	208						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517000													36	66					1.69901e-12	1.78963e-12	1	1	0
GRIN2A	0	broad.mit.edu	37	16	9857178	9857178	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:9857178G>A	ENST00000396573.2	-	14	4532	c.4223C>T	c.(4222-4224)aCg>aTg	p.T1408M	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1408					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACGATGCCGTTGACCTCAA	0.493000													24	38					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732645	88732645	+	Silent	SNP	C	C	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:88732645C>A	ENST00000226284.5	+	7	604	c.537C>A	c.(535-537)acC>acA	p.T179T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	179					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAACGGCACCAGTACCAACA	0.483000													17	17					0.000566183	0.000573442	1	1	0
OR51E2	81285	broad.mit.edu	37	11	4703280	4703280	+	Missense_Mutation	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:4703280A>G	ENST00000396950.3	-	2	901	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGTTCGTATTATCAGAAA	0.488000													18	37					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41517272	41517272	+	Missense_Mutation	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:41517272T>C	ENST00000239882.3	-	7	936	c.622A>G	c.(622-624)Att>Gtt	p.I208V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	208					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAGATAAATTGTGTTTCCT	0.343000													28	35					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	rs142118461		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:43773549C>T	ENST00000244293.7	-	1	101	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy	extracellular region		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622000													5	224					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46466458	46466458	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:46466458G>T	ENST00000328306.4	-	17	2132	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	703					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCCATTCCCAGGTCTCGCTCC	0.612000													22	20					9.57634e-11	9.95435e-11	1	1	0
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	1388					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779405	52779405	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:52779405G>A	ENST00000396947.3	+	3	515	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	FST_ENST00000256759.3_Missense_Mutation_p.V117I	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	117	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACCCCGCTGCGTCTGCGCCCC	0.507000													10	41					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153173283	153173283	+	Missense_Mutation	SNP	C	C	T	rs34514067		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153173283C>T	ENST00000370028.3	-	23	2918	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R914H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	914					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCAGGCGGCTGCTGGG	0.687000													35	19					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45858101	45858101	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:45858101G>A	ENST00000391945.4	-	17	1629	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	518	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCATAGTTCCGGATCACAGCT	0.587000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				31	96					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825938	135825938	+	Missense_Mutation	SNP	G	G	A	rs144171880	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:135825938G>A	ENST00000250617.6	-	5	1672	c.467C>T	c.(466-468)aCg>aTg	p.T156M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	156					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCCATTTTCCGTCATCTCCTA	0.393000													39	40					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69222647	69222647	+	Missense_Mutation	SNP	T	T	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:69222647T>A	ENST00000462284.1	+	8	922	c.620T>A	c.(619-621)gTa>gAa	p.V207E	MDM2_ENST00000545204.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.V176E|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	201	Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCTCTGTGTGTAATAAGGGAG	0.403000			A		"""sarcoma, glioma, colorectal, other"""								53	57					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622120	64622120	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:64622120G>A	ENST00000320631.3	-	5	1544	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	EHD1_ENST00000359393.2_Silent_p.A430A|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	430					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCCCTCGCCGGCCCCCTCGC	0.662000													4	122					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129060251	129060251	+	Missense_Mutation	SNP	A	A	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:129060251A>T	ENST00000394422.3	+	14	2007	c.1979A>T	c.(1978-1980)aAa>aTa	p.K660I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	660					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCTCCAAGAAAAGATAAGAAT	0.453000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	60					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4848111	4848111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:4848111G>T	ENST00000262482.6	+	10	1509	c.853G>T	c.(853-855)Gag>Tag	p.E285*	RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	285					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						CGAAGACCAAGAGGAAGAAAC	0.602000													10	93					0.000978159	0.000978159	1	1	0
ADCY2	108	broad.mit.edu	37	5	7626306	7626306	+	Missense_Mutation	SNP	C	C	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:7626306C>G	ENST00000338316.4	+	4	686	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	199				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATTTTCATCTGTGGGAACC	0.448000													55	85					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18245714	18245714	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18245714G>A	ENST00000262811.5	+	16	1705	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	569	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATGGGCGTCGTCCTCTATGA	0.632000													31	109					0	0	1	0	0
AC009499.1	0	broad.mit.edu	37	2	33952822	33952822	+	RNA	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:33952822G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCAGCTCCACGAGGAGGATGA	0.617000													6	9					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328178	48328178	+	Missense_Mutation	SNP	A	A	G			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:48328178A>G	ENST00000319988.1	+	1	404	c.404A>G	c.(403-405)gAt>gGt	p.D135G		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GCCATCATGGATTGCCGGAAG	0.582000													41	37					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960617	36960617	+	Silent	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:36960617G>A	ENST00000300105.6	-	4	1734	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	251					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGGGAGGCGTCCCTGGAGT	0.687000													11	126					0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937266	102937266	+	Silent	SNP	T	T	C			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:102937266T>C	ENST00000260247.5	-	5	714	c.372A>G	c.(370-372)aaA>aaG	p.K124K	DCUN1D5_ENST00000531543.1_Silent_p.K39K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	124	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		AAAAGTCAAATTTGTTTTGTA	0.303000													31	37					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352638	44352638	+	Missense_Mutation	SNP	C	C	T	rs111879759		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:44352638C>T	ENST00000324461.7	+	7	2182	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	629			R -> H (in dbSNP:rs1061768).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCTTTATCAACGTAAGGAATT	0.393000													7	95					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													4	242					0	0	1	0	0
MNF1	0	broad.mit.edu	37	6	33665460	33665460	+	Silent	SNP	G	G	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr6:33665460G>T	ENST00000607484.1	-	4	391	c.351C>A	c.(349-351)ccC>ccA	p.P117P	MNF1_ENST00000374214.3_Silent_p.P92P	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		117																	CAGGACCCTTGGGGGCAAACT	0.488000													32	42					7.61165e-28	8.12596e-28	1	1	0
C2orf48	348738	broad.mit.edu	37	2	10350625	10350625	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:10350625G>A	ENST00000381786.3	+	4	671	c.382G>A	c.(382-384)Gcg>Acg	p.A128T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		TGCACAGAGGGCGCTGGGCTC	0.587000													23	48					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396250	1396250	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:1396250G>A	ENST00000324385.5	+	25	2644	c.2486G>A	c.(2485-2487)gGg>gAg	p.G829E	BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	829					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGCCAGAGGGGGCCACGGGG	0.692000													10	9					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													5	108					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296556	39296556	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39296556G>A	ENST00000345847.4	-	1	183	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagctgggacggcagcAGGTG	0.667000													38	36					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													7	148	---	---	---	---					
UPF1	5976	broad.mit.edu	37	19	18958595	18958596	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18958595_18958596insA	ENST00000262803.5	+	3	686_687	c.414_415insA	c.(412-417)aaccagfs	p.NQ138fs	UPF1_ENST00000599848.1_Frame_Shift_Ins_p.NQ138fs	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	138	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTTACTGTAATACCAGCAAGAA	0.436											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	88	---	---	---	---