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
HS3ST4	9951	broad.mit.edu	37	16	26147182	26147182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr16:26147182G>A	ENST00000331351.5	+	2	1376	c.984G>A	c.(982-984)tgG>tgA	p.W328*	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	328	Substrate binding (By similarity).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ATGCTTCCTGGAGTGCCATTC	0.532000													45	186					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408498	80408498	+	Silent	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr5:80408498G>T	ENST00000265080.4	+	14	1975	c.1908G>T	c.(1906-1908)gtG>gtT	p.V636V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	636	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCTGCAAAGTGCCCCAGATCC	0.478000													53	148					5.39261e-20	7.80999e-20	1	1	0
ODF2	4957	broad.mit.edu	37	9	131222921	131222921	+	Silent	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr9:131222921G>A	ENST00000303890.5	+	5	669	c.84G>A	c.(82-84)ccG>ccA	p.P28P	ODF2_ENST00000434106.2_Intron|ODF2_ENST00000444119.2_Silent_p.P28P|ODF2_ENST00000351030.3_Silent_p.P28P|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Silent_p.P28P|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372807.5_Silent_p.P28P|ODF2_ENST00000448249.3_Silent_p.P28P	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	0					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAAAACTCCCGAAACCATCAG	0.567000													10	33					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53222866	53222866	+	Missense_Mutation	SNP	G	G	T	rs34971355		TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr3:53222866G>T	ENST00000394729.2	+	15	1874	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S	PRKCD_ENST00000330452.3_Missense_Mutation_p.A516S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	516	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TGACTATATCGCCCCTGAGGT	0.617000													9	36					0.000274275	0.000303146	1	1	0
TENM2	57451	broad.mit.edu	37	5	167675227	167675227	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr5:167675227G>A	ENST00000519204.1	+	26	7038	c.6920G>A	c.(6919-6921)cGt>cAt	p.R2307H	TENM2_ENST00000520394.1_Missense_Mutation_p.R2189H|TENM2_ENST00000545108.1_Missense_Mutation_p.R2427H|TENM2_ENST00000518659.1_Missense_Mutation_p.R2428H|TENM2_ENST00000403607.2_Missense_Mutation_p.R2252H					teneurin transmembrane protein 2																		TTCACTCAGCGTGATTATGAT	0.527000													19	69					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036423	153036423	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:153036423C>A	ENST00000538966.1	+	13	2480	c.2209C>A	c.(2209-2211)Ctg>Atg	p.L737M	PLXNB3_ENST00000361971.5_Missense_Mutation_p.L714M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.L324M|PLXNB3_ENST00000538543.1_Silent_p.A183A|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L367M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	714					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGGGCCTGCCTGCCTC	0.632000													10	94					4.68919e-08	6.45724e-08	1	1	0
ATP7A	538	broad.mit.edu	37	X	77264753	77264753	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:77264753C>A	ENST00000341514.6	+	7	2017	c.1862C>A	c.(1861-1863)aCa>aAa	p.T621K	ATP7A_ENST00000343533.5_Missense_Mutation_p.T621K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	621	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTATCCATACAATTGAAGTA	0.388000													11	253					1.61879e-10	2.26631e-10	1	1	0
YARS2	51067	broad.mit.edu	37	12	32908436	32908436	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr12:32908436G>A	ENST00000324868.8	-	1	400	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	125					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TCCTTGGTACGGCCGCTCGGG	0.682000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663690	29663690	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr17:29663690G>C	ENST00000358273.4	+	42	6568	c.6185G>C	c.(6184-6186)tGc>tCc	p.C2062S	NF1_ENST00000356175.3_Missense_Mutation_p.C2041S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2062					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACAAGACATGCTTATCTCCA	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	38					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938685	132938685	+	Silent	SNP	A	A	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr6:132938685A>G	ENST00000275191.2	-	1	632	c.525T>C	c.(523-525)acT>acC	p.T175T	TAAR2_ENST00000367931.1_Silent_p.T220T|TAAR2_ENST00000537809.1_Silent_p.T175T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	220						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TAGACCCAGGAGTGAAGAAAC	0.428000													13	89					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	27					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123175476	123175476	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr4:123175476A>T	ENST00000264501.4	+	38	6422	c.6049A>T	c.(6049-6051)Aga>Tga	p.R2017*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R2017*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R2017*			Q2LD37	K1109_HUMAN	KIAA1109	2017					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CACCAATGTGAGATCTCACAC	0.333000													9	49					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	37					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23557448	23557448	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr19:23557448G>C	ENST00000300619.7	-	2	354	c.149C>G	c.(148-150)gCc>gGc	p.A50G	ZNF91_ENST00000397082.2_Missense_Mutation_p.A50G|ZNF91_ENST00000599743.1_Missense_Mutation_p.A50G	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	50	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACCCAGGAAGGCCAGGTTTCT	0.353000													20	80					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	15					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714323	138714323	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr5:138714323G>T	ENST00000353963.3	-	10	1174	c.1136C>A	c.(1135-1137)aCg>aAg	p.T379K	SLC23A1_ENST00000348729.3_Missense_Mutation_p.T375K	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	375					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCCGTTGCCCGTGCCCAATAG	0.602000													6	6					0.0293803	0.0293803	1	1	0
DCST1	149095	broad.mit.edu	37	1	155014057	155014057	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr1:155014057T>C	ENST00000295542.1	+	7	812	c.716T>C	c.(715-717)aTg>aCg	p.M239T	DCST1_ENST00000423025.2_Missense_Mutation_p.M214T|DCST1_ENST00000368419.2_Missense_Mutation_p.M239T|DCST1_ENST00000392480.1_Missense_Mutation_p.M239T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	239						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACACAGAAGATGTATGAGCTG	0.617000													7	84					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43382077	43382077	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr19:43382077A>T	ENST00000244296.2	-	2	555	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	PSG1_ENST00000403380.3_Missense_Mutation_p.F140I|PSG1_ENST00000436291.2_Missense_Mutation_p.F140I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.F140I|PSG1_ENST00000595124.1_Missense_Mutation_p.F140I|PSG1_ENST00000595356.1_Missense_Mutation_p.F140I	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGTAAGGTGAAGGTGAAACGT	0.527000													24	297					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846103	106846103	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:106846103C>T	ENST00000276185.4	+	16	4933	c.4933C>T	c.(4933-4935)Ccc>Tcc	p.P1645S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1645						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGTGGCCAGCCCCGAGGCCCG	0.647000													4	21					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344733	21344733	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr22:21344733G>T	ENST00000215739.8	+	8	1069	c.710G>T	c.(709-711)cGg>cTg	p.R237L	LZTR1_ENST00000389355.3_Missense_Mutation_p.R218L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	237					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTGTGTGCCGGGACAAGATG	0.577000													11	73					6.40141e-05	7.68169e-05	1	1	0
NELFA	7469	broad.mit.edu	37	4	1993410	1993410	+	Silent	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr4:1993410G>A	ENST00000382882.3	-	2	1393	c.276C>T	c.(274-276)ctC>ctT	p.L92L	NELFA_ENST00000411638.1_Silent_p.L81L|NELFA_ENST00000542778.1_Intron	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		CGAGGCTGGCGAGCTGGATGA	0.607000													6	110					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528961	102528961	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:102528961A>T	ENST00000372680.1	-	3	825	c.531T>A	c.(529-531)gaT>gaA	p.D177E		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GGGCGAATGGATCCTGTACAT	0.498000													8	109					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285701	16285701	+	Silent	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr17:16285701G>T	ENST00000302182.3	+	2	872	c.480G>T	c.(478-480)ctG>ctT	p.L160L	UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.L84L|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.L160L|UBB_ENST00000395839.1_Silent_p.L160L	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	160	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TGAAGACCCTGACCGGCAAGA	0.547000													9	86					0.000442599	0.000476645	1	1	0
SALL4	57167	broad.mit.edu	37	20	50400995	50400995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr20:50400995G>A	ENST00000217086.4	-	4	3082	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*	SALL4_ENST00000395997.3_Nonsense_Mutation_p.Q554*|SALL4_ENST00000371539.3_Nonsense_Mutation_p.Q214*	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	991					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCCCACTCTGGATCACAGAG	0.577000													18	60					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502574	130502574	+	Silent	SNP	C	C	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr9:130502574C>T	ENST00000314830.8	-	10	2276	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	SH2D3C_ENST00000373274.3_Silent_p.K561K|SH2D3C_ENST00000429553.1_Silent_p.K367K|SH2D3C_ENST00000420366.1_Silent_p.K563K|SH2D3C_ENST00000373277.4_Silent_p.K564K|SH2D3C_ENST00000373276.3_Silent_p.K653K	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	721	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGGCTTGAGCTTCTTCTCGT	0.577000													10	58					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112164552	112164552	+	Splice_Site	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr5:112164552G>T	ENST00000457016.1	+	14	2006		c.e14-1		CTC-554D6.1_ENST00000520401.1_Splice_Site|APC_ENST00000257430.4_Splice_Site|APC_ENST00000508376.2_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTAATTTGCAGGTTATTGCGA	0.308000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	32					1.52009e-12	2.1642e-12	1	1	0
CYB5R4	51167	broad.mit.edu	37	6	84629121	84629121	+	Missense_Mutation	SNP	A	A	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr6:84629121A>G	ENST00000369681.4	+	7	652	c.512A>G	c.(511-513)gAt>gGt	p.D171G		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	171	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TACAGCTATGATTGGTTCCAA	0.234000													7	19					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008428	46008428	+	Missense_Mutation	SNP	G	G	A	rs138619849	by1000genomes	TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr3:46008428G>A	ENST00000296137.2	-	8	2603	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	FYCO1_ENST00000535325.1_Missense_Mutation_p.R800W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	800					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGGGCTGCCCGCATCTTGGCC	0.637000													15	34					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78081599	78081599	+	Splice_Site	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr17:78081599C>A	ENST00000302262.3	+	5	1078	c.858_splice	c.e5-1	p.P287_splice	GAA_ENST00000390015.3_Splice_Site_p.P287_splice	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	287					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CATGTCCCAGCCCGGTGCGAA	0.682000													4	22					0.00024832	0.000281877	1	1	0
HEPH	9843	broad.mit.edu	37	X	65480003	65480003	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:65480003A>T	ENST00000519389.1	+	19	3439	c.3260A>T	c.(3259-3261)gAg>gTg	p.E1087V	HEPH_ENST00000441993.2_Missense_Mutation_p.E1036V|HEPH_ENST00000419594.1_Missense_Mutation_p.E844V|HEPH_ENST00000336279.5_Missense_Mutation_p.E766V|HEPH_ENST00000374727.3_Missense_Mutation_p.E1036V|HEPH_ENST00000343002.2_Missense_Mutation_p.E1033V			Q9BQS7	HEPH_HUMAN	hephaestin	1033	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAGGTTGTGGAGATGGTGGCC	0.532000													8	55					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903757	20903757	+	Silent	SNP	T	T	C	rs10841611	by1000genomes	TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr12:20903757T>C	ENST00000381552.1	+	14	2315	c.1947T>C	c.(1945-1947)caT>caC	p.H649H	SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000540354.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.H649H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCGCATCTCATTGCTACAGCA	0.378000													5	54					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113158474	113158474	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr13:113158474G>A	ENST00000261965.3	-	19	2365	c.2179C>T	c.(2179-2181)Ctt>Ttt	p.L727F	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L727F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	727					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAACATTCAAGCACCTGGGAA	0.463000													8	64					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227860	30227860	+	Silent	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr20:30227860G>A	ENST00000376075.3	+	3	282	c.207G>A	c.(205-207)aaG>aaA	p.K69K	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	69					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGAAGGAGAAGGGAAGCTGGA	0.587000													3	19					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65560460	65560460	+	Missense_Mutation	SNP	A	A	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr14:65560460A>G	ENST00000284165.6	-	3	285	c.137T>C	c.(136-138)tTg>tCg	p.L46S	MAX_ENST00000341653.2_Missense_Mutation_p.L46S|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000556979.1_Missense_Mutation_p.L46S|MAX_ENST00000555419.1_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.L37S|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000555667.1_Missense_Mutation_p.L37S|MAX_ENST00000556443.1_Missense_Mutation_p.L37S|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000358402.4_Missense_Mutation_p.L37S|MAX_ENST00000246163.2_Missense_Mutation_p.L46S|MAX_ENST00000358664.4_Missense_Mutation_p.L46S	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	46	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TGAGTCCCGCAAACTGTGAAA	0.478000													27	33					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106204054	106204054	+	RNA	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr14:106204054G>T	ENST00000390548.2	-	0	1244																											CCCATGGCTGGTGTGTGGGGT	0.667000													9	7					0.000274275	0.000303146	1	1	0
ALAS2	212	broad.mit.edu	37	X	55052359	55052359	+	Silent	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:55052359C>A	ENST00000330807.5	-	2	212	c.75G>T	c.(73-75)gtG>gtT	p.V25V	ALAS2_ENST00000396198.3_Silent_p.V49V|ALAS2_ENST00000335854.4_Silent_p.V25V	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	25					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGTCTTAACCACCTTGCCTA	0.542000													4	48					0.00909568	0.00920527	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57131937	57131937	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr3:57131937C>G	ENST00000296318.7	-	12	1882	c.1794G>C	c.(1792-1794)gaG>gaC	p.E598D	IL17RD_ENST00000463523.1_Missense_Mutation_p.E454D|IL17RD_ENST00000427856.2_Missense_Mutation_p.E574D|IL17RD_ENST00000320057.5_Missense_Mutation_p.E454D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	598						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AGAAGTCACTCTCAGGCCCTG	0.572000													5	26					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48204879	48204879	+	Splice_Site	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr16:48204879C>A	ENST00000394747.1	-	26	4048		c.e26-1		ABCC11_ENST00000394748.1_Splice_Site|ABCC11_ENST00000356608.2_Splice_Site|ABCC11_ENST00000353782.5_Splice_Site|ABCC11_ENST00000565329.1_Splice_Site	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11							integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TAGGTTGAATCTACCATATGA	0.458000													42	82					1.62957e-23	2.44436e-23	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73770820	73770820	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr7:73770820C>G	ENST00000223398.6	+	5	1211	c.884C>G	c.(883-885)cCa>cGa	p.P295R	CLIP2_ENST00000395060.1_Missense_Mutation_p.P295R|CLIP2_ENST00000361545.5_Missense_Mutation_p.P295R	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	295						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCTACCAGCCCAGCCAAGGCC	0.587000													11	69					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560308	32560308	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr14:32560308G>A	ENST00000345122.3	+	2	748	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E145K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E145K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E145K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	145					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACAAGACTTTGAACAGAAGCA	0.368000													42	98					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285552	7285552	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr10:7285552A>T	ENST00000361972.4	-	9	1178	c.1088T>A	c.(1087-1089)cTt>cAt	p.L363H	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L363H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	363					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCATTTTTAAGGCACCACTG	0.438000													14	35					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19757014	19757014	+	Splice_Site	SNP	T	T	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr19:19757014T>C	ENST00000357324.6	-	23	3274	c.3248_splice	c.e23+1	p.K1083_splice	ATP13A1_ENST00000291503.5_Splice_Site_p.K965_splice	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1083					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCACTTACTTCTCGGGGCT	0.577000													5	23					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528946	102528946	+	Silent	SNP	C	C	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:102528946C>T	ENST00000372680.1	-	3	840	c.546G>A	c.(544-546)agG>agA	p.R182R		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCCGTTGGCCCCTTGGGGCGA	0.488000													7	106					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43122183	43122183	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr15:43122183T>C	ENST00000267890.6	-	5	493	c.385A>G	c.(385-387)Att>Gtt	p.I129V	TTBK2_ENST00000567274.1_Missense_Mutation_p.I129V|TTBK2_ENST00000567840.1_Missense_Mutation_p.I129V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	129	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGCTTTCAATAGACTCCAAA	0.463000													12	59					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281217	142281217	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr3:142281217T>A	ENST00000350721.4	-	4	1148	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	ATR_ENST00000383101.3_Nonsense_Mutation_p.K343*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	343					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAAGCTGCTTTTAGCAAATCA	0.378000								Other conserved DNA damage response genes					27	58					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030701	56030701	+	Missense_Mutation	SNP	T	T	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr12:56030701T>C	ENST00000309675.2	+	1	58	c.26T>C	c.(25-27)cTg>cCg	p.L9P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATACTACACTGCCTGAATTC	0.502000													18	82					0	0	1	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528960	102528960	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:102528960G>A	ENST00000372680.1	-	3	826	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P178S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GGGGCGAATGGATCCTGTACA	0.502000													7	108					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77722939	77722939	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr14:77722939C>A	ENST00000298351.4	+	24	2435	c.2291C>A	c.(2290-2292)aCc>aAc	p.T764N		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	764						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCCAGGCACACCTATGGCACC	0.607000													47	96					2.13384e-23	3.1446e-23	1	1	0
JAM3	83700	broad.mit.edu	37	11	134010583	134010583	+	Silent	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr11:134010583G>T	ENST00000299106.4	+	3	333	c.174G>T	c.(172-174)tcG>tcT	p.S58S	JAM3_ENST00000441717.3_Silent_p.S58S|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Silent_p.S103S			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	58	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TTACGGATTCGCAGACAAGTG	0.443000													6	57					0.00116845	0.00122687	1	1	0
OR13C2	392376	broad.mit.edu	37	9	107367310	107367310	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr9:107367310A>T	ENST00000542196.1	-	1	641	c.599T>A	c.(598-600)cTt>cAt	p.L200H		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTGGCCACAAGCATGATGAA	0.403000													40	122					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785035	54785035	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chrX:54785035C>A	ENST00000218436.6	-	8	1501	c.1472G>T	c.(1471-1473)tGg>tTg	p.W491L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	491					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GAAAACGGCCCAAGGGGAGGC	0.622000													10	21					1.58986e-06	2.02346e-06	1	1	0
ERN1	2081	broad.mit.edu	37	17	62125218	62125218	+	Splice_Site	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr17:62125218C>A	ENST00000433197.2	-	19	2624	c.2529_splice	c.e19+1	p.Q843_splice		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	843	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACGTCTCTACCTGGAAGAACT	0.418000													12	34					0.00010058	0.000118996	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603771	111603771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr3:111603771C>T	ENST00000431670.2	+	2	1258	c.847C>T	c.(847-849)Cga>Tga	p.R283*	PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.R310*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.R283*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	283						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAATTCCAAACGAACAAAACT	0.458000													10	40					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946468	144946468	+	Silent	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr8:144946468G>A	ENST00000525985.1	-	2	1025	c.954C>T	c.(952-954)ctC>ctT	p.L318L				P58107	EPIPL_HUMAN	epiplakin 1	318						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)			GGGCCTCTAGGAGTGGCAGCG	0.682000													16	49					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167109	6167109	+	Silent	SNP	C	C	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr12:6167109C>T	ENST00000261405.5	-	14	1889	c.1635G>A	c.(1633-1635)cgG>cgA	p.R545R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	545	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTCCTCCACCCGGGGCTCCG	0.647000													16	63					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61068582	61068582	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr13:61068582G>T	ENST00000196169.3	+	8	1240	c.452G>T	c.(451-453)gGa>gTa	p.G151V	TDRD3_ENST00000535286.1_Missense_Mutation_p.G244V|TDRD3_ENST00000377881.2_Missense_Mutation_p.G151V|TDRD3_ENST00000377894.2_Missense_Mutation_p.G151V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	151					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGACATTTGGAGGAGGTGGT	0.358000													14	45					0.000566183	0.000602018	1	1	0
THAP8	199745	broad.mit.edu	37	19	36526358	36526358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr19:36526358C>A	ENST00000292894.1	-	4	1353	c.809G>T	c.(808-810)cGg>cTg	p.R270L	AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Missense_Mutation_p.R125L	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	270							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTGGGGATCCGAGTGTCCAG	0.562000													22	53					1.28384e-07	1.71179e-07	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26701995	26701995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr22:26701995C>A	ENST00000529632.2	+	6	1595	c.1399C>A	c.(1399-1401)Cca>Aca	p.P467T	SEZ6L_ENST00000402979.1_Missense_Mutation_p.P240T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P467T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P240T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P467T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P467T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P467T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	467	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGTCCTCTCCCCAAGTTACCC	0.572000													4	44					0.00024832	0.000281877	1	1	0
ASTN1	460	broad.mit.edu	37	1	176915104	176915104	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr1:176915104G>C	ENST00000367654.2	-	13	2244	c.2231C>G	c.(2230-2232)tCc>tGc	p.S744C	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S736C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S736C|ASTN1_ENST00000367657.3_Missense_Mutation_p.S736C			O14525	ASTN1_HUMAN	astrotactin 1	744					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACTTCCTTGGAATGGTTGTT	0.483000													15	128					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56481921	56481921	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr19:56481921G>A	ENST00000291971.3	+	6	2464	c.2393G>A	c.(2392-2394)tGc>tAc	p.C798Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.C798Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	798						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGAAGACTGCTTGGCCACC	0.463000													28	109					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832926	79832926	+	Silent	SNP	T	T	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr4:79832926T>C	ENST00000335016.5	+	16	3391	c.3225T>C	c.(3223-3225)caT>caC	p.H1075H	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1075						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537000													25	83					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125609313	125609313	+	Missense_Mutation	SNP	C	C	G			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr12:125609313C>G	ENST00000316519.6	+	11	1390	c.1184C>G	c.(1183-1185)cCg>cGg	p.P395R	AACS_ENST00000545511.1_5'UTR|AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.P395R	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	395					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCCATGAAGCCGGGTGAGTGT	0.517000													8	53					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228163524	228163524	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr2:228163524G>A	ENST00000396578.3	+	43	4040	c.3878G>A	c.(3877-3879)cGt>cAt	p.R1293H	COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1293	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCACCAGGTCGTCTGGTGAGT	0.378000													22	36					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344734	21344734	+	Silent	SNP	G	G	T			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr22:21344734G>T	ENST00000215739.8	+	8	1070	c.711G>T	c.(709-711)cgG>cgT	p.R237R	LZTR1_ENST00000389355.3_Silent_p.R218R|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	237					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGTGTGCCGGGACAAGATGT	0.577000													11	77					6.40141e-05	7.68169e-05	1	1	0
GBF1	8729	broad.mit.edu	37	10	104139047	104139047	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr10:104139047G>C	ENST00000369983.3	+	34	4758	c.4498G>C	c.(4498-4500)Gac>Cac	p.D1500H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1500					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTAGTTGCTAGACCTGATGCA	0.582000													15	27					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62730082	62730082	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr20:62730082G>A	ENST00000349451.3	+	6	1455	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	OPRL1_ENST00000336866.2_Missense_Mutation_p.R348H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R348H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	348					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGTCTGACCGCGTGCGCAGC	0.637000													6	39					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150915140	150915141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr1:150915140_150915141insC	ENST00000271640.5	+	6	839_840	c.649_650insC	c.(649-651)cctfs	p.P217fs	SETDB1_ENST00000368963.1_Frame_Shift_Ins_p.P217fs|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P217fs|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.P217fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACAAAGGCACCCTTATTGCC	0.470													27	97	---	---	---	---					
TRAPPC11	60684	broad.mit.edu	37	4	184601385	184601386	+	Frame_Shift_Ins	INS	-	-	G	rs146470172		TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr4:184601385_184601386insG	ENST00000334690.6	+	10	1280_1281	c.1078_1079insG	c.(1078-1080)gaafs	p.E360fs	TRAPPC11_ENST00000357207.4_Frame_Shift_Ins_p.E360fs	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	360								p.R360W(1)									TGCCCAGGAGCGGAAACAGCTT	0.386													21	74	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr5:139422565_139422567delGCT	ENST00000541337.1	-	1	317_319	c.88_90delAGC	c.(88-90)del	p.S30del	NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	30	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.675													2	4	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													3	6	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													3	6	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													5	10	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71319052	71319054	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr16:71319052_71319054delCAC	ENST00000338099.5	-	3	1106_1108	c.770_772delGTG	c.(769-774)taa>t	p.CE257del	FTSJD1_ENST00000434935.2_In_Frame_Del_p.CE257del			Q8IYT2	FTSJ1_HUMAN		257						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGACAACTTCACAGTAATGCAA	0.419													24	55	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193656	7193661	+	In_Frame_Del	DEL	GCCGTT	GCCGTT	-			TCGA-50-8457-01A-11D-2323-08	TCGA-50-8457-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b99fefb-dd56-4ec2-840d-d91cf4cd9857	619f4da7-84f4-4a67-be95-12b6d477e8a4	g.chr17:7193656_7193661delGCCGTT	ENST00000007699.5	-	5	716_721	c.653_658delAACGGC	c.(652-660)ccc>c	p.QRP218del		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	218	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CATCGTCGGGGCCGTTGCCCAGAGTC	0.680													28	105	---	---	---	---					
