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
UNC5A	90249	broad.mit.edu	37	5	176306886	176306886	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176306886G>A	ENST00000329542.4	+	15	2802	c.2528G>A	c.(2527-2529)tGa>tAa	p.*843*	UNC5A_ENST00000261961.3_Silent_p.*803*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	0					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGAGTGCTGAGGCCGGCCA	0.672000													13	21					0	0	1	0	0
FAM229B	619208	broad.mit.edu	37	6	112420550	112420550	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:112420550G>C	ENST00000368656.2	+	3	361	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	FAM229B_ENST00000604268.1_Missense_Mutation_p.E22Q	NM_001033564.1	NP_001028736.1			family with sequence similarity 229, member B																		TTCTTCAATTGAGCTGGAACC	0.448000													17	55					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32206008	32206008	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32206008C>T	ENST00000373658.3	-	12	2270	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	BAI2_ENST00000257070.4_Silent_p.L643L|BAI2_ENST00000527361.1_Silent_p.L643L|BAI2_ENST00000398547.1_Silent_p.L576L|BAI2_ENST00000398556.3_Silent_p.L591L|BAI2_ENST00000440175.2_Silent_p.L285L|BAI2_ENST00000373655.2_Silent_p.L643L|BAI2_ENST00000398542.1_Silent_p.L576L|BAI2_ENST00000398538.1_Silent_p.L631L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	643					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGACATTCCTCAGAATGTCCA	0.612000													6	21					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110574587	110574587	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:110574587C>T	ENST00000242591.5	+	8	1209	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	IFT81_ENST00000361948.4_Missense_Mutation_p.H235Y|IFT81_ENST00000552912.1_Missense_Mutation_p.H235Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	235					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAAGCTATTTCATGCAGTGCA	0.358000													9	7					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708396	152708396	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:152708396C>T	ENST00000367255.5	-	54	8899	c.8298G>A	c.(8296-8298)ctG>ctA	p.L2766L	SYNE1_ENST00000448038.1_Silent_p.L2773L|SYNE1_ENST00000423061.1_Silent_p.L2773L|SYNE1_ENST00000265368.4_Silent_p.L2766L|SYNE1_ENST00000341594.5_Silent_p.L2805L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2766					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTCTCTTTCAGACCTGGCT	0.493000										HNSCC(10;0.0054)			33	66					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861134	111861134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:111861134G>A	ENST00000369740.1	+	9	852	c.749G>A	c.(748-750)tGg>tAg	p.W250*	CHIA_ENST00000353665.6_Nonsense_Mutation_p.W89*|CHIA_ENST00000343320.6_Nonsense_Mutation_p.W250*|CHIA_ENST00000483391.1_Nonsense_Mutation_p.W89*|CHIA_ENST00000451398.2_Nonsense_Mutation_p.W89*|CHIA_ENST00000430615.1_Nonsense_Mutation_p.W142*|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	250					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ATGAACTACTGGAAGGACAAT	0.488000													12	74					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607782	141607782	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:141607782C>T	ENST00000389484.3	-	29	5799	c.4828G>A	c.(4828-4830)Gtg>Atg	p.V1610M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1610					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCTATCACAGTAACGTCA	0.373000										TSP Lung(27;0.18)			10	37					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409720	22409720	+	RNA	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:22409720G>A	ENST00000390441.2	+	0	266																											TGAAAGCCACGAAGGCTGATG	0.468000													14	42					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350788	146350788	+	Silent	SNP	C	C	T	rs143790799		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:146350788C>T	ENST00000392299.2	+	2	605	c.135C>T	c.(133-135)gtC>gtT	p.V45V	GRM1_ENST00000507907.1_Silent_p.V45V|GRM1_ENST00000361719.2_Silent_p.V45V|GRM1_ENST00000492807.2_Silent_p.V45V|GRM1_ENST00000282753.1_Silent_p.V45V|GRM1_ENST00000355289.4_Silent_p.V45V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	45					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACGGAGATGTCATCATTGGAG	0.597000													34	101					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	RNA	SNP	C	C	T	rs3738597	by1000genomes	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:16953672C>T	ENST00000412962.1	-	0	589																											TCGGTCTTCTCGGCCTGCAGC	0.652000													11	117					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21548926	21548926	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21548926C>G	ENST00000298694.4	+	12	2608	c.2481C>G	c.(2479-2481)ttC>ttG	p.F827L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.F827L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	827					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCCGTGCTTTCAGCGCTGAGG	0.637000													29	48					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52395143	52395143	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:52395143C>G	ENST00000354957.3	-	5	530	c.246G>C	c.(244-246)gaG>gaC	p.E82D	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.E82D	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CATCAGCTTTCTCAATTTCTA	0.408000													20	38					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551177	102551177	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102551177C>G	ENST00000334701.7	-	6	1469	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K274N|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K95N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	274					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	tcttcttcttcttgtcaccat	0.378000													10	28					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49459487	49459487	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:49459487G>A	ENST00000293288.8	+	4	266	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	BAX_ENST00000391871.3_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.R40Q|BAX_ENST00000345358.7_Missense_Mutation_p.R89Q|BAX_ENST00000415969.2_Missense_Mutation_p.R89Q|BAX_ENST00000539787.1_Missense_Mutation_p.R89Q	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	89					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GACTCCCCCCGAGAGGTCTTT	0.577000													43	94					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38895553	38895553	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:38895553C>G	ENST00000252530.5	+	4	374	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.L119V|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	119										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCAGGCTTTCTCTGCTCAGA	0.602000													9	385					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100193037	100193037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:100193037C>T	ENST00000376387.4	+	8	1088	c.898C>T	c.(898-900)Cag>Tag	p.Q300*		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	300					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TACCCACATTCAGTGGTTTAG	0.393000													20	37					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457547	110457547	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:110457547G>A	ENST00000378402.5	+	38	5553	c.5449G>A	c.(5449-5451)Gga>Aga	p.G1817R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1817	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTTGTGGTGGGAAGTAAAGG	0.473000										HNSCC(38;0.096)			27	67					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211682	50211682	+	Missense_Mutation	SNP	G	G	A	rs149131307		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:50211682G>A	ENST00000002829.3	+	5	839	c.355G>A	c.(355-357)Gtc>Atc	p.V119I	SEMA3F_ENST00000413852.1_Missense_Mutation_p.V51I|SEMA3F_ENST00000434342.1_Missense_Mutation_p.V119I	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	119	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGGGAACTTCGTCAGGCTCAT	0.642000													39	55					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15545933	15545933	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:15545933G>A	ENST00000428417.1	+	3	902	c.456G>A	c.(454-456)ccG>ccA	p.P152P	TMEM51_ENST00000376008.2_Silent_p.P152P|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Silent_p.P152P|TMEM51_ENST00000376014.3_Silent_p.P152P	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	152						integral to membrane		p.P152P(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCAGAACCCGAGGTTGAGCA	0.582000													9	74					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640112	145640112	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:145640112C>G	ENST00000276833.5	-	4	1201	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	SLC39A4_ENST00000301305.3_Missense_Mutation_p.E325Q	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	325						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CACTCACTCTCTGACTGGCTG	0.652000													18	54					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105696	233105696	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:233105696C>T	ENST00000366627.4	+	4	407	c.336C>T	c.(334-336)atC>atT	p.I112I	NTPCR_ENST00000366628.4_Silent_p.I112I|NTPCR_ENST00000490098.1_3'UTR			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	112							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						TGTGCGTCATCGATGAGATTG	0.507000													52	70					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025847	99025847	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:99025847G>C	ENST00000453547.2	-	2	91	c.92C>G	c.(91-93)tCt>tGt	p.S31C	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.S31C|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.S31C|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.S22C|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.S22C|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.S31C														p.S31F(1)									TCGAAGGGAAGAATCATTGCA	0.393000													22	55					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86373214	86373214	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:86373214C>T	ENST00000410111.3	-	14	2027	c.1640G>A	c.(1639-1641)aGa>aAa	p.R547K	IMMT_ENST00000409051.2_Missense_Mutation_p.R500K|IMMT_ENST00000254636.5_Missense_Mutation_p.R448K|IMMT_ENST00000449247.2_Missense_Mutation_p.R536K|IMMT_ENST00000442664.2_Missense_Mutation_p.R546K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	547						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCGATTCCTCTGAGTCTGGC	0.353000													10	7					0	0	1	0	0
KRTCAP2	200185	broad.mit.edu	37	1	155145307	155145307	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:155145307C>T	ENST00000295682.4	-	2	174	c.144G>A	c.(142-144)ggG>ggA	p.G48G	KRTCAP2_ENST00000490672.1_5'UTR	NM_173852.3	NP_776251.1	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2	48						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATCTGCATCCCAGCAAAGA	0.637000													20	43					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106763287	106763287	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:106763287C>T	ENST00000515279.1	+	11	1981	c.1761C>T	c.(1759-1761)ctC>ctT	p.L587L	GSTCD_ENST00000394730.3_Silent_p.L500L|GSTCD_ENST00000394728.3_Silent_p.L587L|GSTCD_ENST00000360505.5_Silent_p.L587L|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	587						cytoplasm	rRNA methyltransferase activity	p.L587L(1)|p.L500L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AACGAAGGCTCATAGGTATGT	0.408000													8	31					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506119	149506119	+	Silent	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:149506119G>T	ENST00000261799.4	-	11	2107	c.1638C>A	c.(1636-1638)atC>atA	p.I546I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	546					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGGGAGATGATGGTGAGCA	0.542000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	60					2.56e-06	2.60602e-06	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2228626	2228626	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2228626G>A	ENST00000343516.6	-	20	4313	c.4221C>T	c.(4219-4221)agC>agT	p.S1407S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1407					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTGCCAGTGCTCTTTTCCG	0.726000													6	18					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18907111	18907111	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:18907111G>A	ENST00000388995.6	-	2	467	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	FAM83G_ENST00000345041.4_Missense_Mutation_p.R82W|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R82W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	82										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCGTGCCCCGAGGGTCCTCA	0.697000													8	24					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2260002	2260002	+	Nonstop_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2260002C>G	ENST00000566018.1	-	3	532	c.461G>C	c.(460-462)tGa>tCa	p.*154S	BRICD5_ENST00000562360.1_Silent_p.L129L|BRICD5_ENST00000328540.3_Silent_p.L129L					BRICHOS domain containing 5																		TGTCCTCCATCAGGCGGAGGA	0.692000													5	10					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870942	189870942	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:189870942G>C	ENST00000304636.3	+	42	3220	c.3050G>C	c.(3049-3051)gGa>gCa	p.G1017A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1017	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAAACCCTGGATCAGATGGT	0.373000													14	24					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58988027	58988027	+	Silent	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58988027C>A	ENST00000589222.1	+	12	1025	c.957C>A	c.(955-957)atC>atA	p.I319I	BCAS3_ENST00000407086.3_Silent_p.I319I|BCAS3_ENST00000390652.5_Silent_p.I319I|BCAS3_ENST00000588874.1_Silent_p.I90I|BCAS3_ENST00000588462.1_Silent_p.I319I|BCAS3_ENST00000585744.1_Silent_p.I90I|BCAS3_ENST00000408905.3_Silent_p.I319I			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	319						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAGGCATCATCACAGTTATTG	0.493000													4	115					1.23904e-05	1.25893e-05	1	1	0
IQCG	84223	broad.mit.edu	37	3	197670704	197670704	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:197670704G>C	ENST00000265239.6	-	4	651	c.227C>G	c.(226-228)tCt>tGt	p.S76C	IQCG_ENST00000453254.1_Missense_Mutation_p.S76C|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S76C	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	76										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTTCAGAATAGAGAGCTGGTC	0.463000													29	122					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522462	157522462	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157522462G>C	ENST00000346085.5	+	18	4735	c.4734G>C	c.(4732-4734)atG>atC	p.M1578I	ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCCGTCTATGAAGATGCAGA	0.602000													50	88					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522173	157522173	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157522173G>A	ENST00000346085.5	+	18	4446	c.4445G>A	c.(4444-4446)gGc>gAc	p.G1482D	ARID1B_ENST00000367148.1_Missense_Mutation_p.G1522D|ARID1B_ENST00000350026.5_Missense_Mutation_p.G1469D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G1464D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1469	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGGCCCTGGCGGCCCTACA	0.597000													28	42					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829049	14829049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14829049C>T	ENST00000292530.6	+	12	1001	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q195*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGAGCAACCTCAGCCTGGAGA	0.383000													11	50					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551332	102551332	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102551332C>G	ENST00000334701.7	-	6	1314	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E223Q|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E44Q	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	223					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CGTTCCTTCTCCACCTTCAAA	0.413000													14	50					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15226872	15226872	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:15226872C>T	ENST00000263383.3	-	13	1621	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	ILVBL_ENST00000534378.1_Silent_p.G387G	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	494	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CTCCCAGAGTCCCAAAGGCCC	0.617000													8	50					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128840976	128840976	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:128840976C>G	ENST00000280333.6	+	20	2144	c.2035C>G	c.(2035-2037)Ctg>Gtg	p.L679V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	679					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTTTGATGCTCTGGTAAGAGA	0.488000													32	60					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943051	144943051	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:144943051G>A	ENST00000525985.1	-	2	4442	c.4371C>T	c.(4369-4371)gtC>gtT	p.V1457V				P58107	EPIPL_HUMAN	epiplakin 1	1457						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)			TCCCTGTGCTGACGGGCACCT	0.617000													17	25					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274298	51274298	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:51274298C>G	ENST00000270590.4	+	1	578	c.441C>G	c.(439-441)gtC>gtG	p.V147V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	147						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTACCCCGTCTGGGCCCTGA	0.592000													44	116					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798544	39798544	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:39798544G>A	ENST00000248668.4	-	2	2044	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	682						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGGGGCGCCGAGGTTGGTGG	0.697000													5	14					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31253968	31253968	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:31253968G>C	ENST00000407793.2	+	20	2207	c.1956G>C	c.(1954-1956)gtG>gtC	p.V652V	DDX11_ENST00000350437.4_Silent_p.V652V|DDX11_ENST00000545668.1_Silent_p.V652V|DDX11_ENST00000228264.6_Silent_p.V626V|DDX11_ENST00000542838.1_Silent_p.V652V|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGTCACGTGATCCCTCCAG	0.577000										Multiple Myeloma(12;0.14)			32	98					0	0	1	0	0
ATP5H	10476	broad.mit.edu	37	17	73038632	73038632	+	Silent	SNP	G	G	C	rs139761287		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:73038632G>C	ENST00000301587.4	-	2	161	c.114C>G	c.(112-114)ctC>ctG	p.L38L	KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Silent_p.L38L|KCTD2_ENST00000581589.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	38					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ACCTGGAGGTGAGGGTCTCAT	0.428000													42	132					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14028072	14028072	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:14028072G>C	ENST00000311895.7	+	7	1135	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	376					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACTGGTCCTAGAAAGCAACCC	0.363000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				40	92					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50655186	50655186	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:50655186C>G	ENST00000446044.1	+	4	786	c.190C>G	c.(190-192)Cgg>Ggg	p.R64G	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R64G	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	64	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GTGCTTCCATCGGCGCACTGG	0.612000													39	74					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178090	20178090	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:20178090C>T	ENST00000524983.2	-	4	990	c.702G>A	c.(700-702)atG>atA	p.M234I	DBX1_ENST00000227256.3_Missense_Mutation_p.M273I			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	234					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCCGCCATTTCATGCGTCGGT	0.637000													26	37					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84765060	84765060	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:84765060C>G	ENST00000257776.4	+	2	158	c.23C>G	c.(22-24)tCt>tGt	p.S8C		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	8					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGTTAATTTCTAACAGAACC	0.433000													16	44					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(881)|p.E545Q(18)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	37					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65319844	65319844	+	Missense_Mutation	SNP	C	C	T	rs147206443		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:65319844C>T	ENST00000301873.5	-	7	1488	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	LTBP3_ENST00000322147.4_Missense_Mutation_p.R407H|LTBP3_ENST00000536982.1_Missense_Mutation_p.R33H	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	407	TB 2.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCTCACCAGGCGGAAACACAG	0.677000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	76					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57363930	57363930	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:57363930G>A	ENST00000439986.4	-	2	180	c.143C>T	c.(142-144)tCa>tTa	p.S48L	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	48					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TTTGCTCTCTGAGCAGATTTC	0.582000											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	61					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25376518	25376518	+	Splice_Site	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:25376518G>C	ENST00000255324.5	+	14	1810		c.e14-1		RNF17_ENST00000255325.5_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTCTTGCACAGAATGAAGGCT	0.353000													19	38					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9304265	9304265	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:9304265C>G	ENST00000261336.2	-	33	4244	c.4216G>C	c.(4216-4218)Gaa>Caa	p.E1406Q	PZP_ENST00000381997.2_Missense_Mutation_p.E1192Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTAGATCTTTCAAGCTGGAGA	0.428000													5	26					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572471	47572471	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:47572471G>T	ENST00000253048.5	-	14	2313	c.2276C>A	c.(2275-2277)cCt>cAt	p.P759H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	759							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGGAAGTCAGGGACACCGGC	0.682000													17	51					1.5739e-10	1.62681e-10	1	1	0
TRIM44	54765	broad.mit.edu	37	11	35747621	35747621	+	Silent	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:35747621C>A	ENST00000299413.5	+	3	1204	c.897C>A	c.(895-897)atC>atA	p.I299I	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	299						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TGGCAGACATCCAATCCCACA	0.478000													6	42					3.59834e-05	3.64577e-05	1	1	0
ACOT2	10965	broad.mit.edu	37	14	74036030	74036030	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:74036030G>C	ENST00000238651.5	+	1	268	c.86G>C	c.(85-87)cGa>cCa	p.R29P	ACOT2_ENST00000538782.1_5'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	29					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGTCCTTCGAGCGTCCCGG	0.562000													55	126					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25376660	25376660	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:25376660G>C	ENST00000255324.5	+	14	1952	c.1900G>C	c.(1900-1902)Gat>Cat	p.D634H	RNF17_ENST00000255325.5_Missense_Mutation_p.D635H|RNF17_ENST00000381921.1_Missense_Mutation_p.D634H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	634					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATAAGCAGTGATATGCCTGT	0.318000													28	67					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135745863	135745863	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:135745863C>G	ENST00000264977.3	+	3	2802	c.2185C>G	c.(2185-2187)Cta>Gta	p.L729V	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.L108V|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000490467.1_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	729					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAACAAACTCTAAGCAGAAT	0.363000													20	64					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656013	54656013	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:54656013C>G	ENST00000406403.1	+	13	3259	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	CNOT3_ENST00000358389.3_Missense_Mutation_p.I371M|CNOT3_ENST00000221232.5_Missense_Mutation_p.I552M|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	552	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCAGCCATCAGCTCTGGCA	0.647000													31	47					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86444187	86444187	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:86444187G>C	ENST00000541910.1	-	5	550	c.407C>G	c.(406-408)tCa>tGa	p.S136*	REEP1_ENST00000165698.5_3'UTR|REEP1_ENST00000540790.1_3'UTR|REEP1_ENST00000538924.1_3'UTR|REEP1_ENST00000535845.1_3'UTR	NM_001164732.1	NP_001158204.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	0					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGCCGAGGATGAGGTACTTTT	0.468000													9	48					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029627	76029627	+	Missense_Mutation	SNP	C	C	G	rs146956663		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:76029627C>G	ENST00000275560.3	-	4	798	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	151	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCACATCCTCGTAGTGAAAG	0.627000													11	79					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166502	206166502	+	Splice_Site	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:206166502G>C	ENST00000462231.1	+	19	2839		c.e19-1		PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGTACTCAGAAAAAAGCGC	0.488000													13	27					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33165305	33165305	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:33165305C>T	ENST00000280979.4	+	9	3159	c.2989C>T	c.(2989-2991)Cat>Tat	p.H997Y	AKAP6_ENST00000557272.1_Missense_Mutation_p.H997Y|AKAP6_ENST00000557354.1_Missense_Mutation_p.H997Y	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	997					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCAGCAGCAGCATCTTTACAA	0.478000													11	34					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223770	154223770	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:154223770G>A	ENST00000428931.1	+	13	1634	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	UBAP2L_ENST00000361546.2_Silent_p.K489K|UBAP2L_ENST00000343815.6_Silent_p.K489K|UBAP2L_ENST00000271877.7_Silent_p.K500K	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	489					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACAGCAGAAGAAAAAAGCCT	0.463000													18	89					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759866	3759866	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:3759866C>G	ENST00000316757.3	-	2	597	c.397G>C	c.(397-399)Gag>Cag	p.E133Q		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	133					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCAGGCTCTAGAGGCTCT	0.657000													22	44					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410277	105410277	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105410277C>G	ENST00000333244.5	-	7	11630	c.11511G>C	c.(11509-11511)gtG>gtC	p.V3837V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3837						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGAGACTCACATCGGCCT	0.592000													82	200					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37907333	37907333	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:37907333G>A	ENST00000199447.4	+	11	1023	c.651G>A	c.(649-651)atG>atA	p.M217I	NME8_ENST00000440017.1_Missense_Mutation_p.M217I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	217	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCTCTTTTATGACAAGTGGCT	0.403000													12	32					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812702	31812702	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:31812702G>A	ENST00000334067.3	+	1	106	c.57G>A	c.(55-57)ctG>ctA	p.L19L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GAAGTTACCTGAGGTATCCAG	0.468000													27	56					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182781036	182781036	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:182781036C>G	ENST00000431877.2	+	11	2848	c.2669C>G	c.(2668-2670)tCa>tGa	p.S890*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S890*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S890*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S399*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S737*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	890						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGTCCTTACTCACATAGACAT	0.483000													8	99					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724050	142724050	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:142724050G>C	ENST00000350513.2	-	1	232	c.170C>G	c.(169-171)cCc>cGc	p.P57R		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAAATACATGGGGGACTGCAG	0.438000													38	48					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													3	9					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900384	73900384	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:73900384G>C	ENST00000342056.2	+	13	2121	c.1723G>C	c.(1723-1725)Ggt>Cgt	p.G575R	KCNQ5_ENST00000355635.3_Missense_Mutation_p.G557R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G446R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G547R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G566R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G556R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G556R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	556					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATATTCTGCTGGTCATCTGGA	0.353000													19	36					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112343710	112343710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:112343710C>T	ENST00000389063.2	+	9	1216	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Nonsense_Mutation_p.Q129*	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	340					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AAATGGGCTTCAGCCAGCAAA	0.383000													23	57					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963737	112963737	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:112963737G>C	ENST00000400613.4	-	2	820	c.211C>G	c.(211-213)Cct>Gct	p.P71A	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	71										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATTCTGCAGGAGCAGGTGTG	0.532000													3	43					0	0	1	0	0
IFI35	3430	broad.mit.edu	37	17	41165074	41165074	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:41165074C>G	ENST00000415816.2	+	3	354	c.131C>G	c.(130-132)tCa>tGa	p.S44*	IFI35_ENST00000438323.2_Nonsense_Mutation_p.S44*	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	44					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GTCCCATTTTCAGTGCCCAAG	0.552000													24	167					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389941	93389941	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:93389941C>G	ENST00000238994.5	-	2	781	c.697G>C	c.(697-699)Gag>Cag	p.E233Q		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	233	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ATGCAGAACTCAATTTTCTGC	0.403000													26	68					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915904	77915904	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:77915904G>T	ENST00000310924.2	-	11	2125	c.2010C>A	c.(2008-2010)ttC>ttA	p.F670L	TBC1D16_ENST00000576768.1_Missense_Mutation_p.F295L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.F308L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	670						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCAGGTTTCCGAAGTGCAGGA	0.647000													5	12					0.00116845	0.0011783	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73850006	73850006	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:73850006G>A	ENST00000523207.1	+	3	3004	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	806					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCTTCACTGAAATAGATAC	0.527000													19	41					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10798029	10798029	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:10798029C>G	ENST00000449870.1	+	18	2396	c.2079C>G	c.(2077-2079)ttC>ttG	p.F693L	ILF3_ENST00000588657.1_Missense_Mutation_p.F693L|ILF3_ENST00000590261.1_Missense_Mutation_p.F689L|ILF3_ENST00000318511.3_Missense_Mutation_p.F689L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	689	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TAGGTCAGTTCTACAGCAACG	0.642000													8	42					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199825	20199825	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:20199825G>A	ENST00000400331.5	-	5	467	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MACC1_ENST00000589011.1_Silent_p.F53F|MACC1_ENST00000332878.4_Silent_p.F53F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	53					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CACGAAGGGTGAAAGCATCCG	0.398000													18	44					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998928	56998928	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56998928C>T	ENST00000179765.5	-	15	2786	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	BAZ2A_ENST00000551812.1_Missense_Mutation_p.E895K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E893K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E865K			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	895	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTTGCACCTCACCCAAGCTG	0.572000													22	31					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161496277	161496277	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:161496277C>T	ENST00000309758.4	+	1	2242	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	610					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCATCTTCTCCAGGCTCTAT	0.622000													10	5					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266171	67266171	+	Missense_Mutation	SNP	G	G	T	rs115377785	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67266171G>T	ENST00000356404.3	-	10	1605	c.1380C>A	c.(1378-1380)ttC>ttA	p.F460L	PITPNM1_ENST00000534749.1_Missense_Mutation_p.F460L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.F460L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	460					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGACGGCCTCGAAGGCGGAGC	0.657000													47	56					8.04919e-23	8.43323e-23	1	1	0
DSG1	1828	broad.mit.edu	37	18	28909991	28909991	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:28909991C>G	ENST00000257192.4	+	5	721	c.509C>G	c.(508-510)tCt>tGt	p.S170C		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	170	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAGAAAATTCTAATGCAAGT	0.398000													29	54					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6992681	6992681	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6992681C>T	ENST00000389658.3	-	36	5140	c.5047G>A	c.(5047-5049)Gaa>Aaa	p.E1683K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1683	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAAATCTTCATCCAAAGTC	0.353000													22	44					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52677333	52677333	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:52677333C>G	ENST00000296302.7	-	9	927	c.926G>C	c.(925-927)aGa>aCa	p.R309T	PBRM1_ENST00000394830.3_Missense_Mutation_p.R309T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R309T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R309T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R309T|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.R309T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R309T			Q86U86	PB1_HUMAN	polybromo 1	309					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACCTGTCAGTCTGGCTGCAGC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								6	76					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	434937	434937	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:434937G>A	ENST00000432829.2	+	39	5153	c.4837G>A	c.(4837-4839)Gac>Aac	p.D1613N	DOCK8_ENST00000469391.1_Missense_Mutation_p.D1581N|DOCK8_ENST00000382329.1_Missense_Mutation_p.D1148N|DOCK8_ENST00000453981.1_Missense_Mutation_p.D1681N	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1681	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATGCTGGAGGACCACAGCTA	0.577000													16	61					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748864	152748864	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:152748864G>T	ENST00000334371.2	+	1	17	c.17G>T	c.(16-18)aGc>aTc	p.S6I		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	6					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCAGCAGAGCCAGCAGCAG	0.617000													30	78					9.78306e-22	1.02299e-21	1	1	0
EHD1	10938	broad.mit.edu	37	11	64645870	64645870	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:64645870C>T	ENST00000320631.3	-	1	321	c.67G>A	c.(67-69)Gag>Aag	p.E23K	EHD1_ENST00000359393.2_Missense_Mutation_p.E23K	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	23					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						CGCAGCCCCTCAGCCACCGTC	0.667000													6	53					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819431	819431	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:819431G>C	ENST00000293892.3	-	16	3158	c.3159C>G	c.(3157-3159)ctC>ctG	p.L1053L	MSLNL_ENST00000442466.1_Silent_p.L702L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	702					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCCTGGCCTAGAGCTGGCCCG	0.637000													6	37					0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90801269	90801269	+	Splice_Site	SNP	G	G	A	rs146502095		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:90801269G>A	ENST00000438251.1	+	9	1225		c.e9-1		TTLL13_ENST00000339615.5_Splice_Site|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13						protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGGCCTCGCAGGAAGCTGTCG	0.572000													17	33					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110459742	110459742	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:110459742C>T	ENST00000265175.5	+	23	3737	c.3682C>T	c.(3682-3684)Cac>Tac	p.H1228Y	SEC24B_ENST00000504968.2_Missense_Mutation_p.H1258Y|SEC24B_ENST00000399100.2_Missense_Mutation_p.H1193Y	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1228					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TCCAATCCTTCACATAGTAAA	0.363000													15	57					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830168	231830168	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:231830168G>A	ENST00000439617.2	+	2	717	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	DISC1_ENST00000537876.1_Missense_Mutation_p.E222K|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.E222K|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Missense_Mutation_p.E222K|DISC1_ENST00000539444.1_Missense_Mutation_p.E222K|DISC1_ENST00000366633.3_Missense_Mutation_p.E222K|DISC1_ENST00000602281.1_Missense_Mutation_p.E222K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.E222K	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	222	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCTGCCGGGGAACGTGGAGA	0.627000													25	53					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330580	68330580	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:68330580G>A	ENST00000566454.1	+	11	1589	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V	SLC7A6_ENST00000219343.6_Silent_p.V440V	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	440					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGTTTCTGGTGATAGTGCCCC	0.488000													6	224					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49850456	49850456	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:49850456G>C	ENST00000377214.4	-	8	1271	c.909C>G	c.(907-909)gtC>gtG	p.V303V	TEAD2_ENST00000539846.1_Silent_p.V172V|TEAD2_ENST00000598810.1_Silent_p.V304V|TEAD2_ENST00000311227.2_Silent_p.V300V|TEAD2_ENST00000601519.1_Silent_p.V303V|TEAD2_ENST00000593945.1_Silent_p.V304V			Q15562	TEAD2_HUMAN	TEA domain family member 2	300	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCCAGAACTTGACCAGGAAGA	0.547000													75	199					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150607	193150607	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:193150607C>G	ENST00000367434.4	-	2	841	c.86G>C	c.(85-87)gGa>gCa	p.G29A	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	29					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGAAAGTACTCCAATAAGATG	0.423000													29	60					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37860479	37860479	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:37860479G>A	ENST00000264741.5	+	28	3363	c.3107G>A	c.(3106-3108)tGa>tAa	p.*1036*	AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000430620.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	0					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AAAAACCAGTGAGCTGCCACA	0.443000													5	25					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465979	223465979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:223465979G>A	ENST00000343846.3	-	2	796	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q55*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q55*			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	55	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCACACACTTGAAGGTCATCG	0.517000													38	32					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52314580	52314580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:52314580G>A	ENST00000550683.1	+	9	1558	c.1457G>A	c.(1456-1458)tGg>tAg	p.W486*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.W298*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.W472*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	472	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGGGAGTGCTGGTACCCAAAC	0.552000													9	26					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42976139	42976139	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:42976139G>C	ENST00000485511.1	+	9	1131	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E212Q|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E286Q|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E310Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	318					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTTAAAGAAGAGCACAAGAT	0.493000													15	113					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345100	43345100	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:43345100G>A	ENST00000378852.3	+	6	789	c.664G>A	c.(664-666)Gac>Aac	p.D222N	API5_ENST00000531273.1_Missense_Mutation_p.D222N|API5_ENST00000455725.2_Missense_Mutation_p.D211N|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.D168N|API5_ENST00000534600.1_Missense_Mutation_p.D222N	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	222					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGAACAGGCCGACCTAGAACA	0.468000													18	102					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1438855	1438855	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1438855C>T	ENST00000216879.4	-	3	1135	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	NSFL1C_ENST00000353088.2_Missense_Mutation_p.E90K|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E90K|NSFL1C_ENST00000381658.4_Silent_p.R10R|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E90K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	90	Poly-Glu.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCTGGCCTTCCTCTTCCTCC	0.478000													30	69					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180325500	180325500	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:180325500G>A	ENST00000412756.2	+	10	1306	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TTC14_ENST00000382584.4_Missense_Mutation_p.E413K|TTC14_ENST00000296015.4_Missense_Mutation_p.E413K	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	413							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGCTTTGGATGAGACTTTTAA	0.284000													8	33					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116059062	116059062	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:116059062C>G	ENST00000369271.3	-	16	2370	c.2070G>C	c.(2068-2070)cgG>cgC	p.R690R	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.R743R|AFAP1L2_ENST00000304129.4_Silent_p.R690R	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	690					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTTTCTCTTTCCGGAGCTGAG	0.562000													34	62					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229580736	229580736	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:229580736C>T	ENST00000261396.3	-	25	3350	c.3259G>A	c.(3259-3261)Gat>Aat	p.D1087N	NUP133_ENST00000537506.1_Missense_Mutation_p.D1071N|NUP133_ENST00000366679.1_Missense_Mutation_p.D1016N	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1087					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCTTTGCCATCAGAACTGGAC	0.308000													15	84					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22261169	22261169	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:22261169C>T	ENST00000324559.8	+	9	1134	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	273						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATACACACTTCACCAGAA	0.403000													28	89					0	0	1	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011006	23011006	+	RNA	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:23011006G>T	ENST00000390304.2	+	0	107																											CCTATGAGCTGACACAGCCAT	0.562000													49	112					1.59911e-31	1.68691e-31	1	1	0
TPSB2	64499	broad.mit.edu	37	16	1279656	1279656	+	RNA	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:1279656C>G	ENST00000430512.2	-	0	195				TPSB2_ENST00000339687.6_RNA|TPSB2_ENST00000445910.1_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CGCGGACTCTCAGGCTCACCT	0.697000													7	50					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109680251	109680251	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109680251C>T	ENST00000338432.7	+	37	5151	c.5032C>T	c.(5032-5034)Cac>Tac	p.H1678Y	ACACB_ENST00000377854.5_Missense_Mutation_p.H1608Y|ACACB_ENST00000377848.3_Missense_Mutation_p.H1678Y|ACACB_ENST00000543201.1_Missense_Mutation_p.H344Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1678					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.H1678N(1)|p.H344N(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCATGTTTCACTCCTTCGG	0.517000													36	71					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102505992	102505992	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:102505992C>T	ENST00000552283.1	-	3	314	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.E59K			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	59					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TGAATGCCTTCAACGTCTGCT	0.353000													18	39					0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748554	43748554	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:43748554C>T	ENST00000523677.1	-	3	477	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	C1orf210_ENST00000423420.1_Missense_Mutation_p.E82K	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	82						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCTCATCTTCAGCCACCTGT	0.607000													25	42					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48080963	48080963	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:48080963G>A	ENST00000348904.3	+	3	300	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf57_ENST00000539619.1_Missense_Mutation_p.E30K|C7orf57_ENST00000430738.1_Missense_Mutation_p.E75K|C7orf57_ENST00000420324.1_Missense_Mutation_p.E75K|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	30										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAGCGCTCTGAGAAGGCCGT	0.587000													14	32					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113899295	113899295	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:113899295G>C	ENST00000451881.1	+	13	1315	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	CUL4A_ENST00000375441.3_Missense_Mutation_p.D356H|CUL4A_ENST00000375440.4_Missense_Mutation_p.D456H|CUL4A_ENST00000326335.4_Missense_Mutation_p.D356H	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	456					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TTATAAAAAAGATTTGGCAAA	0.373000													19	50					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25924388	25924388	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:25924388C>T	ENST00000398988.3	+	11	1428	c.983C>T	c.(982-984)tCa>tTa	p.S328L	KSR1_ENST00000268763.6_Missense_Mutation_p.S328L|KSR1_ENST00000509603.2_Missense_Mutation_p.S465L|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000319524.6_Missense_Mutation_p.S465L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	463					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTCCCGACATCATCCAACCCA	0.642000													9	27					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437683	201437683	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:201437683C>T	ENST00000367311.3	-	1	629	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	PHLDA3_ENST00000367309.1_Missense_Mutation_p.E78K|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	78	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						CCGCCCCCTTCGGTCACCAGC	0.667000													31	123					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075673	41075673	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:41075673C>T	ENST00000249016.4	+	1	920	c.224C>T	c.(223-225)tCg>tTg	p.S75L	MCHR1_ENST00000381433.2_Missense_Mutation_p.S75L|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	75					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CTGGAAGCCTCGCTGCTGCCC	0.677000													25	65					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031338	114031338	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:114031338C>T	ENST00000297405.5	-	6	1232	c.988G>A	c.(988-990)Gac>Aac	p.D330N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D330N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D330N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D290N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	330	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATTGCTGTCTGTAACAAAA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	78					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884456	228884456	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:228884456C>T	ENST00000392056.3	-	7	1160	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E372K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	372						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTGTGTCTTCATGGTCTCCT	0.443000													25	52					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119395	3119395	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:3119395C>T	ENST00000304094.1	+	1	481	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCCCACACTCTGCTCACAGC	0.502000													36	60					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57562750	57562750	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:57562750C>T	ENST00000258214.2	-	2	586	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	114										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CGGTTGCGCTCAGCGCGCACC	0.731000													9	13					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968101	99968101	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:99968101G>C	ENST00000298999.3	+	5	533	c.230G>C	c.(229-231)aGa>aCa	p.R77T	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R77T|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like									p.R77I(1)									AATCCTGATAGAAAGGAGCAT	0.348000													31	70					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149589169	149589169	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:149589169G>C	ENST00000230671.2	+	14	2273	c.1902G>C	c.(1900-1902)tcG>tcC	p.S634S	SLC6A7_ENST00000524041.1_Intron	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	634						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGGAGGAGTCGATGATGTGAG	0.602000													4	16					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100551111	100551111	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:100551111C>T	ENST00000287482.5	-	16	1988	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q449Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	616					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TAAATAGGTTCTGGCTGAGTC	0.333000													16	54					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78357725	78357725	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:78357725G>A	ENST00000582970.1	+	59	14462	c.14319G>A	c.(14317-14319)caG>caA	p.Q4773Q	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.Q2846Q|RNF213_ENST00000508628.2_Silent_p.Q4822Q|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATTTCCTGCAGAAGGTATGTC	0.483000													30	105					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45475280	45475280	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:45475280G>A	ENST00000361462.2	+	5	2897	c.2714G>A	c.(2713-2715)cGa>cAa	p.R905Q	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.R905Q|FAM179B_ENST00000361577.3_Missense_Mutation_p.R905Q			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	905							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCTTCCCGACGAGGTCTAAAT	0.423000													45	73					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790149	80790149	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80790149C>T	ENST00000269394.3	-	2	1015	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	61						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTTGGGAACTCGATCCTGCTC	0.448000													28	63					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604086	54604086	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:54604086C>T	ENST00000474759.1	+	8	891	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CACNA2D3_ENST00000288197.5_Silent_p.S281S|CACNA2D3_ENST00000490478.1_Silent_p.S187S|CACNA2D3_ENST00000415676.2_Silent_p.S281S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	281	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGTCTCATCCATTTTGGATA	0.453000													4	106					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277860	152277860	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:152277860C>G	ENST00000368799.1	-	3	9537	c.9502G>C	c.(9502-9504)Gag>Cag	p.E3168Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3168	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.552000									Ichthyosis				146	466					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30308113	30308113	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:30308113G>A	ENST00000262643.3	+	5	529	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CCNE1_ENST00000444983.2_Missense_Mutation_p.D69N|CCNE1_ENST00000357943.5_Missense_Mutation_p.D84N	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	84					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGAAGATGATGACCGGGTTTA	0.532000			A		serous ovarian								25	76					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887024	25887024	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:25887024C>T	ENST00000376351.3	+	11	2828	c.2469C>T	c.(2467-2469)caC>caT	p.H823H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	823						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTATGACCACGTGAGAGACC	0.498000													36	112					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656682	49656682	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:49656682C>G	ENST00000252825.4	-	1	1999	c.1813G>C	c.(1813-1815)Gaa>Caa	p.E605Q	HRC_ENST00000595625.1_Missense_Mutation_p.E605Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	605					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCACCGCTTTCCTCCTCGCTG	0.647000													11	26					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67670652	67670652	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67670652G>A	ENST00000264010.4	+	11	2341	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	CTCF_ENST00000401394.1_Missense_Mutation_p.E305K	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	633					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGTAGAAATTGAACCTGAGCC	0.567000													65	140					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7217983	7217983	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:7217983C>T	ENST00000361972.4	-	17	2043	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	SFMBT2_ENST00000397167.1_Silent_p.E651E	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	651					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						TGGAGCAGTTCTCTGGGCAGT	0.423000													49	107					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093059	160093059	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:160093059C>G	ENST00000361216.3	+	4	323	c.234C>G	c.(232-234)ctC>ctG	p.L78L	ATP1A2_ENST00000392233.3_Silent_p.L78L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	78					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAACGCCCTCACACCACCTC	0.632000													98	101					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44008099	44008099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44008099C>A	ENST00000292140.5	-	2	532	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	PHLDB3_ENST00000599242.1_Nonsense_Mutation_p.E58*	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	58										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCTCCCACTTCTTCTTCCTCT	0.697000													23	54					1.42536e-11	1.47896e-11	1	1	0
LDLR	3949	broad.mit.edu	37	19	11216217	11216217	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:11216217C>T	ENST00000558518.1	+	4	822	c.635C>T	c.(634-636)tCc>tTc	p.S212F	LDLR_ENST00000535915.1_Missense_Mutation_p.S171F|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.S212F|LDLR_ENST00000557933.1_Missense_Mutation_p.S212F	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	212	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGCATCCACTCCAGCTGGCGC	0.637000													15	89					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417451	7417451	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7417451C>T	ENST00000322644.6	+	29	6267	c.5868C>T	c.(5866-5868)ctC>ctT	p.L1956L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1956	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTACAGTCTCACAAGCCCGG	0.662000													6	50					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142238343	142238343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:142238343G>C	ENST00000519067.1	-	1	326	c.23C>G	c.(22-24)tCa>tGa	p.S8*	SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000433583.2_Intron|SLC45A4_ENST00000024061.3_Nonsense_Mutation_p.S8*			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGACAGCCCTGAGGCTGGGCT	0.547000													36	112					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112876706	112876706	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:112876706C>G	ENST00000161863.4	+	9	1465	c.1252C>G	c.(1252-1254)Caa>Gaa	p.Q418E	YTHDC2_ENST00000515883.1_Missense_Mutation_p.Q418E	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	418							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTACTCAGCTCAAGAAAATAG	0.348000													18	28					0	0	1	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74564832	74564832	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74564832G>C	ENST00000225276.5	-	7	1139	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	274					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGATGTAGCAGCTTGAATTTA	0.557000													11	53					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784012	8784012	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:8784012C>A	ENST00000447110.1	-	19	2711	c.2587G>T	c.(2587-2589)Gat>Tat	p.D863Y	PIK3R5_ENST00000584803.1_Missense_Mutation_p.D862Y|PIK3R5_ENST00000581552.1_Missense_Mutation_p.D863Y	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	863					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAGCAGAGATCAGGTGCGGCC	0.632000													16	26					1.52009e-12	1.57878e-12	1	1	0
THOC2	57187	broad.mit.edu	37	X	122778706	122778706	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:122778706G>C	ENST00000245838.8	-	14	1514	c.1483C>G	c.(1483-1485)Ctt>Gtt	p.L495V	THOC2_ENST00000491737.1_Missense_Mutation_p.L380V|THOC2_ENST00000355725.4_Missense_Mutation_p.L495V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	495					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATCAAAGAAAGAGATGGAAGT	0.333000													20	11					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56142406	56142406	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56142406G>A	ENST00000257868.5	+	2	519	c.482G>A	c.(481-483)tGc>tAc	p.C161Y		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	161					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						AGCCCTCTCTGCTGCCATTTT	0.562000													62	143					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455379	16455379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:16455379G>A	ENST00000395824.1	-	6	2694	c.2077C>T	c.(2077-2079)Caa>Taa	p.Q693*	ZNF287_ENST00000395825.3_Nonsense_Mutation_p.Q693*			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	686					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTCTGATGTTGATTAAGTGAT	0.363000													24	46					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145024688	145024688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:145024688C>A	ENST00000322810.4	-	1	356	c.187G>T	c.(187-189)Gag>Tag	p.E63*	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	63	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAAAGGTCTCGCGGACCAGG	0.682000													3	15					0.004672	0.0046982	1	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215185	140215185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:140215185C>A	ENST00000525929.1	+	1	1217	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.S406*|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTATTCATTGGTGCTG	0.587000													80	153					1.4051e-37	1.4837e-37	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56386091	56386091	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:56386091G>C	ENST00000355701.3	-	22	5412	c.4542C>G	c.(4540-4542)atC>atG	p.I1514M	BZRAP1_ENST00000343736.4_Missense_Mutation_p.I1514M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.I1454M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1514						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGATGCTGATGCCCCCGC	0.632000													14	27					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27861163	27861163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:27861163G>T	ENST00000261716.3	+	19	2908	c.2389G>T	c.(2389-2391)Gag>Tag	p.E797*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.E649*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	797					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGGAAGCAGAGTGCCAGGT	0.433000													8	25					1.76689e-08	1.81583e-08	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								6	106					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169634894	169634894	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:169634894C>T	ENST00000366787.3	-	11	1835	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	529	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCTTCCCTCCGTACTGAGG	0.677000													17	38					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29033588	29033588	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:29033588G>C	ENST00000524189.1	-	10	980	c.942C>G	c.(940-942)ctC>ctG	p.L314L	KIF13B_ENST00000521515.1_Silent_p.L314L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	314					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACTTACTTTGAGCAGCCAAG	0.418000													10	9					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761646	92761646	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:92761646G>A	ENST00000318238.4	-	5	4855	c.3639C>T	c.(3637-3639)ctC>ctT	p.L1213L	SAMD9L_ENST00000437805.1_Silent_p.L1213L|SAMD9L_ENST00000411955.1_Silent_p.L1213L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1213										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAAGGGAGTGAGCTGAAGAA	0.388000													11	120					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296822	9296822	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9296822G>A	ENST00000344248.2	+	1	544	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCCTATGACCGGTTTGTGGCT	0.502000													6	997					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129764189	129764189	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:129764189C>T	ENST00000226319.6	+	3	414	c.134C>T	c.(133-135)tCa>tTa	p.S45L	PHF17_ENST00000511647.1_Missense_Mutation_p.S45L|PHF17_ENST00000413543.2_Missense_Mutation_p.S45L|PHF17_ENST00000452328.2_Missense_Mutation_p.S45L|PHF17_ENST00000512960.1_Missense_Mutation_p.S45L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		45					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGAAAGCCTTCAGAGGTACTT	0.448000													16	22					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108793	64108793	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:64108793C>T	ENST00000356786.5	+	5	484	c.440C>T	c.(439-441)tCa>tTa	p.S147L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	147					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGGGAGCGTCAGTACAGGTG	0.602000													24	49					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077002	10077002	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:10077002C>G	ENST00000264828.3	-	64	4855	c.4770G>C	c.(4768-4770)aaG>aaC	p.K1590N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1590	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCAAACTTCTTGTCGGGAT	0.577000													6	86					0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52767200	52767200	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:52767200G>A	ENST00000211122.3	-	4	281	c.216C>T	c.(214-216)ctC>ctT	p.L72L	GSTA3_ENST00000370968.1_Silent_p.L22L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	72	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAATGTAGTTGAGAATGGCTC	0.423000													60	112					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275483	58275483	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:58275483G>C	ENST00000360374.2	-	1	95	c.96C>G	c.(94-96)atC>atG	p.I32M		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATGAGGTAGATGAATAAAA	0.468000													23	50					0	0	1	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017361	26017361	+	Silent	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:26017361C>A	ENST00000244573.3	-	1	679	c.600G>T	c.(598-600)acG>acT	p.T200T		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	200					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TCTTTGGCTTCGTCACCCTAG	0.448000													51	138					1.11015e-26	1.16652e-26	1	1	0
C9orf171	389799	broad.mit.edu	37	9	135447846	135447846	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:135447846G>A	ENST00000343036.2	+	7	960	c.912G>A	c.(910-912)gaG>gaA	p.E304E	C9orf171_ENST00000393216.2_Silent_p.E268E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	304										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ACCGGGAAGAGTGTGCCGTGC	0.607000													30	38					0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4325296	4325296	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:4325296G>C	ENST00000600324.1	-	11	1056	c.989C>G	c.(988-990)tCt>tGt	p.S330C	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Missense_Mutation_p.S330C	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	330	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCAACTAGAGGAAGCCAC	0.567000													13	26					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87485655	87485655	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:87485655C>T	ENST00000341119.5	-	4	455	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	37					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTAACAACATCCAGGGGTGTC	0.338000													7	142					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7525937	7525937	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7525937C>G	ENST00000313599.3	-	14	3766	c.3709G>C	c.(3709-3711)Gag>Cag	p.E1237Q	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1237Q|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1247Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1237	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E1237Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATCCAGGTCTCTTCTGCTGGG	0.458000													31	39					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61304130	61304130	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:61304130G>C	ENST00000402291.1	+	6	748	c.507G>C	c.(505-507)ttG>ttC	p.L169F	KIAA1841_ENST00000356719.2_Missense_Mutation_p.L169F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L169F|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L169F|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	169										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAGATCTTTTGATATCAGAAA	0.378000													18	55					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34067824	34067824	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:34067824G>A	ENST00000397527.1	+	20	3160	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.E814K|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	814	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTGAAGCTGGAACTGGACAC	0.582000													20	59					0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31619879	31619879	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:31619879G>C	ENST00000307145.3	+	1	822	c.464G>C	c.(463-465)cGa>cCa	p.R155P		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	155	Arg/Lys-rich (basic).				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		CGGCGGGGCCGAAGTCGCGCC	0.716000													4	4					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538895	4538895	+	Missense_Mutation	SNP	C	C	G	rs142669067		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:4538895C>G	ENST00000306390.6	-	2	561	c.101G>C	c.(100-102)tGg>tCg	p.W34S	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	34						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACCCCCCAGGCTGAGGC	0.582000													30	79					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457101	20457101	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:20457101C>T	ENST00000426804.1	-	1	4685	c.4201G>A	c.(4201-4203)Gag>Aag	p.E1401K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCTCAGGCTCCCTCCTCTCC	0.597000													7	46					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6943353	6943353	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6943353C>T	ENST00000389658.3	-	62	8986	c.8893G>A	c.(8893-8895)Gag>Aag	p.E2965K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2965	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTTGGGCTCATATGCAGCT	0.438000													23	50					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16338838	16338838	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:16338838G>C	ENST00000400202.1	-	3	2388	c.1676C>G	c.(1675-1677)tCa>tGa	p.S559*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S559*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S559*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	559	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGCTTTGCTTGATGTAAGTAA	0.438000													25	222					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894634	71894634	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:71894634G>A	ENST00000258104.3	+	47	5606	c.5329G>A	c.(5329-5331)Gac>Aac	p.D1777N	DYSF_ENST00000410020.3_Missense_Mutation_p.D1816N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1795N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1799N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1778N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1798N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1785N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1815N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1794N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1809N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.D1808N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1777						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTGCAGCCAGACATCGAGCA	0.637000													15	39					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54558484	54558484	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:54558484G>C	ENST00000251636.5	-	24	3950	c.3802C>G	c.(3802-3804)Cat>Gat	p.H1268D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1268							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGCCATCCATGAGTTTGCAAA	0.423000													27	88					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45636827	45636827	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:45636827G>A	ENST00000273317.4	+	1	477	c.456G>A	c.(454-456)gaG>gaA	p.E152E	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.E152E	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	152					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTTCCAGGGAGAGCCTGGCGA	0.612000													33	58					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71520408	71520408	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:71520408C>T	ENST00000262213.2	-	1	196	c.27G>A	c.(25-27)aaG>aaA	p.K9K	TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	9					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTGGGGGGCTCTTGGTGCTTT	0.642000													39	62					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88452837	88452837	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:88452837G>A	ENST00000261304.2	-	4	544	c.438C>T	c.(436-438)ctC>ctT	p.L146L	GALC_ENST00000393569.2_Silent_p.L120L|GALC_ENST00000393568.4_Silent_p.L123L|GALC_ENST00000544807.2_Silent_p.L90L|GALC_ENST00000554916.1_5'UTR	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	146					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.L146L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTACCAATGAGTGTAATAT	0.373000													6	14					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93614860	93614860	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:93614860G>C	ENST00000371627.4	+	22	3269	c.2890G>C	c.(2890-2892)Gag>Cag	p.E964Q		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	964	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGATGATAAAGAGTTTCAGTC	0.338000													6	21					0	0	1	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74564815	74564815	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74564815G>A	ENST00000225276.5	-	7	1156	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	279					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGTAGCTGATGAAGTCCGGAT	0.562000													13	50					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77078228	77078228	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:77078228C>T	ENST00000539857.2	+	6	978	c.563C>T	c.(562-564)tCt>tTt	p.S188F	ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCATTCCCGTCTGCACCTCAA	0.597000													18	17					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754983	6754983	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:6754983G>T	ENST00000245908.6	-	5	1109	c.840C>A	c.(838-840)ttC>ttA	p.F280L	SH2D3A_ENST00000437152.3_Missense_Mutation_p.F158L	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	280					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.F280L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CATGGGGGCAGAAAGAGATCT	0.612000													64	213					1.42676e-28	1.50215e-28	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44588038	44588038	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:44588038G>A	ENST00000322927.2	-	15	2155	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	ZNF335_ENST00000426788.1_Silent_p.F530F	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCCGTGTGCTGAAGTGGCAGT	0.637000													14	26					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77444488	77444488	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:77444488C>G	ENST00000322886.7	-	4	641	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	E2F7_ENST00000416496.2_Missense_Mutation_p.E136Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	136					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTTTGCTTTTCAAATTCGTCC	0.453000													14	49					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603744	111603744	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:111603744C>T	ENST00000431670.2	+	2	1231	c.820C>T	c.(820-822)Cca>Tca	p.P274S	PHLDB2_ENST00000393925.3_Missense_Mutation_p.P274S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P274S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.P274S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P274S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P301S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P274S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	274						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						CAGCTTGCCTCCAAGAAACTC	0.468000													19	87					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33590999	33590999	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:33590999G>A	ENST00000380099.3	+	1	429	c.421G>A	c.(421-423)Gag>Aag	p.E141K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	141	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCGCTGCGCGAGCTCGGGGT	0.706000													10	22					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7574983	7574983	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:7574983C>G	ENST00000379802.3	+	17	2732	c.2391C>G	c.(2389-2391)gtC>gtG	p.V797V	DSP_ENST00000418664.2_Silent_p.V797V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	797	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAAACTGTCTGCCTGGACC	0.458000													24	53					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112580000	112580000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:112580000G>T	ENST00000257604.5	+	6	1368	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E251*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	251					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TCTGCAAAATGAAGGCCAAGC	0.552000													18	66					3.32936e-07	3.39563e-07	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969550	140969550	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:140969550G>A	ENST00000298296.1	+	4	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	293	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCATCTGAGGAGGTCATCTG	0.522000													51	45					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186089237	186089237	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:186089237G>A	ENST00000271588.4	+	80	12418	c.12189G>A	c.(12187-12189)ccG>ccA	p.P4063P	HMCN1_ENST00000367492.2_Silent_p.P4063P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4063	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGAACCCGGCTGGTACAG	0.448000													22	26					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119773055	119773055	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:119773055C>G	ENST00000327554.2	+	1	539	c.74C>G	c.(73-75)tCg>tGg	p.S25W	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.S25W|CCDC60_ENST00000536742.1_Missense_Mutation_p.S25W	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	25								p.S25*(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTTATGCCTCGGAGAACCTA	0.473000													21	55					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149602274	149602274	+	Nonstop_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:149602274C>G	ENST00000348628.6	-	18	2101	c.1436G>C	c.(1435-1437)tGa>tCa	p.*479S	SLC6A7_ENST00000524041.1_3'UTR|CAMK2A_ENST00000398376.3_Nonstop_Mutation_p.*490S|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	0					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGTCCCTCAGCTGTAAGA	0.602000													3	31					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43025831	43025831	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:43025831C>T	ENST00000388752.3	-	2	661	c.237G>A	c.(235-237)atG>atA	p.M79I	MRPL2_ENST00000230413.5_Missense_Mutation_p.M79I|MRPL2_ENST00000489623.1_Missense_Mutation_p.M79I|MRPL2_ENST00000487429.1_3'UTR|MRPL2_ENST00000468957.1_Missense_Mutation_p.M79I	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	79					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CAGACTTCCTCATCTTCACTG	0.488000													44	110					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089060	4089060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:4089060C>T	ENST00000404826.2	+	18	2822	c.2683C>T	c.(2683-2685)Cag>Tag	p.Q895*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q895*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	895	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTCCGCCTCAGCAGTTTAT	0.612000													32	25					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146078	111146078	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:111146078C>T	ENST00000485317.1	-	3	2000	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	KCNA2_ENST00000440270.1_Missense_Mutation_p.D443N|KCNA2_ENST00000316361.4_Missense_Mutation_p.D443N|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	443						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TTCTTTAGGTCAGGGGAGGAT	0.448000													22	59					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57270939	57270939	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:57270939G>C	ENST00000262293.4	+	5	801	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCTGCGTTCTGATCACCCCTG	0.532000													27	59					0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966178	139966178	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:139966178C>T	ENST00000280614.2	+	3	1039	c.846C>T	c.(844-846)atC>atT	p.I282I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	282					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AGTTCTGCATCGCTGTTACCC	0.532000													31	68					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933203	38933203	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:38933203C>T	ENST00000274276.3	+	18	2999	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	866					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGGCAGCTTCTGACTCTGGC	0.463000													77	133					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995911	57995911	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:57995911G>A	ENST00000316770.2	-	1	479	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CAGCATCTGCGTGCACAGCTC	0.617000													17	31					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93179217	93179217	+	Splice_Site	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:93179217C>T	ENST00000393218.2	-	9	881		c.e9-1		LGMN_ENST00000334869.4_Splice_Site|LGMN_ENST00000555699.1_Splice_Site|LGMN_ENST00000557434.1_Splice_Site	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain						hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGAACACCATCTGTGAGGCAG	0.587000													7	9					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607644	607644	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:607644G>C	ENST00000264555.5	+	14	2316	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q	PHRF1_ENST00000416188.2_Missense_Mutation_p.E729Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.E728Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E726Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	730							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACACGGGCAGAGAGCGAGGC	0.741000													10	53					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562415	145562415	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145562415C>T	ENST00000355594.4	+	10	2190	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	701										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGCGGTCTCCGAGGGCTGT	0.632000													17	38					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314714	176314714	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176314714G>C	ENST00000292432.5	-	11	1429	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	446	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGGCCAGGAGCATCACTG	0.642000													15	35					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89599159	89599159	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:89599159C>T	ENST00000402738.1	+	19	2309	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	HERC3_ENST00000543130.1_Silent_p.L134L|HERC3_ENST00000264345.3_Silent_p.L690L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	690					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCATGCTTCTCACCCTGGAGC	0.527000													16	44					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11687266	11687266	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:11687266C>T	ENST00000592828.1	-	6	929	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	ACP5_ENST00000412435.2_Missense_Mutation_p.R176Q|ACP5_ENST00000433365.2_Missense_Mutation_p.R176Q|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.R176Q	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	176					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTTCACGTCTCGGGGCCTCTC	0.597000													18	71					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75090940	75090940	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:75090940C>T	ENST00000401621.2	-	9	1102	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E328K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.E328K|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTTACCTTTTCAGTTTTGCCA	0.403000													5	10					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43656905	43656905	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:43656905C>G	ENST00000264663.5	+	16	2665	c.2444C>G	c.(2443-2445)tCt>tGt	p.S815C	NNT_ENST00000344920.4_Missense_Mutation_p.S815C|NNT_ENST00000512996.2_Missense_Mutation_p.S684C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	815					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TCTGCTCTCTCTGCTGTCATG	0.423000													27	67					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58013615	58013615	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58013615C>G	ENST00000225577.4	+	11	1039	c.1018C>G	c.(1018-1020)Cct>Gct	p.P340A	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P317A|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P340A|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P287A	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	340	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGGAGCTGGTCCTGGGGACGC	0.398000													38	54					0	0	1	0	0
RPL28	6158	broad.mit.edu	37	19	55897785	55897785	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:55897785G>T	ENST00000344063.2	+	2	689	c.60G>T	c.(58-60)agG>agT	p.R20S	RPL28_ENST00000558131.1_Missense_Mutation_p.R20S|RPL28_ENST00000560055.1_Missense_Mutation_p.R20S|RPL28_ENST00000558752.1_Missense_Mutation_p.R20S|RPL28_ENST00000431533.2_Missense_Mutation_p.R20S|RPL28_ENST00000559463.1_Missense_Mutation_p.R20S|RPL28_ENST00000428193.2_Missense_Mutation_p.R20S|RPL28_ENST00000560583.1_Missense_Mutation_p.R20S|RPL28_ENST00000558815.1_Missense_Mutation_p.R20S|RPL28_ENST00000458349.2_Missense_Mutation_p.R20S			P46779	RL28_HUMAN	ribosomal protein L28	20					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TGATCAAGAGGAATAAGCAGA	0.607000													13	24					0.000308642	0.00031183	1	1	0
HMGN1	3150	broad.mit.edu	37	21	40720242	40720242	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:40720242C>T	ENST00000380749.5	-	4	384	c.102G>A	c.(100-102)gcG>gcA	p.A34A	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Silent_p.A50A|HMGN1_ENST00000380748.1_Silent_p.A24A	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	34					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTTCGGCTTCGCTTCCACTT	0.562000													36	79					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487312	248487312	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:248487312G>A	ENST00000317965.2	-	1	587	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCATGAGAGGATTAGTAGG	0.423000													126	173					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081071	53081071	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:53081071C>A	ENST00000305901.5	-	1	1138	c.1011G>T	c.(1009-1011)tgG>tgT	p.W337C	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	337					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGAGTTTGCTCCAGGGTTTGG	0.647000													24	65					7.87624e-14	8.2041e-14	1	1	0
IDE	3416	broad.mit.edu	37	10	94291603	94291603	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:94291603G>A	ENST00000265986.6	-	4	619	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	188					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCATGTTCTGAATCAACTGC	0.403000													21	26					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432151	220432151	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:220432151C>T	ENST00000404537.1	-	4	1737	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	OBSL1_ENST00000373873.4_Missense_Mutation_p.E561K|OBSL1_ENST00000265318.4_Missense_Mutation_p.E561K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E561K|OBSL1_ENST00000289656.3_Missense_Mutation_p.E148K|OBSL1_ENST00000373876.1_Missense_Mutation_p.E561K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	561	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATCCAGTCTTCAGAGCCCACT	0.627000													4	6					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853580	88853580	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:88853580G>C	ENST00000537554.1	-	2	4976	c.1414C>G	c.(1414-1416)Ctg>Gtg	p.L472V	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.L439V|CNR1_ENST00000369499.2_Missense_Mutation_p.L472V|CNR1_ENST00000535130.1_Missense_Mutation_p.L472V|CNR1_ENST00000369501.2_Missense_Mutation_p.L472V|CNR1_ENST00000549890.1_Missense_Mutation_p.L472V|CNR1_ENST00000428600.2_Missense_Mutation_p.L472V|CNR1_ENST00000549716.1_Missense_Mutation_p.L411V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	472					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAGGCTCACAGAGCCTCGGCA	0.463000													42	163					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393474	154393474	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:154393474C>G	ENST00000435029.4	+	1	215	c.55C>G	c.(55-57)Ctg>Gtg	p.L19V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	19	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGTCGCCCTCTGGTCCCCAA	0.532000													34	63					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057048	1057048	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:1057048G>C	ENST00000382251.3	+	5	1790	c.1461G>C	c.(1459-1461)ttG>ttC	p.L487F	DMRT2_ENST00000302441.6_Missense_Mutation_p.L487F|DMRT2_ENST00000358146.2_Missense_Mutation_p.L487F|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	487					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GTCCTGAGTTGAAAACACCAT	0.408000													33	83					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230935	75230935	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:75230935C>T	ENST00000325680.7	+	1	867	c.743C>T	c.(742-744)cCa>cTa	p.P248L	YLPM1_ENST00000238571.3_Missense_Mutation_p.P248L|YLPM1_ENST00000552421.1_Missense_Mutation_p.P248L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGCTCCACCACCACCGTCC	0.557000													23	56					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161025725	161025725	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:161025725C>T	ENST00000283249.2	-	7	1252	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ITGB6_ENST00000409967.2_Missense_Mutation_p.E339K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E297K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E339K|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	339	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTGCTTACCTCATATAAATGA	0.338000													10	32					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	686377	686377	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:686377C>G	ENST00000304478.4	+	2	475	c.369C>G	c.(367-369)atC>atG	p.I123M		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	123					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGGGAAGATCCTGCTGGAAG	0.428000													17	57					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9580336	9580336	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9580336C>G	ENST00000301480.4	-	8	712	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	167	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTGCTCAACTCTTCCTCTTCC	0.468000													15	184					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183910630	183910630	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:183910630G>C	ENST00000429586.2	+	18	1881	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	ABCF3_ENST00000292808.5_Missense_Mutation_p.E560Q|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	566	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACCATGTGGAGCAGCTGGA	0.537000													14	61					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005976	30005976	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:30005976C>T	ENST00000279392.3	-	4	1320	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	164	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TACCCCTTTTCCTCCTCCTCA	0.567000													109	129					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067149	66067149	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:66067149G>A	ENST00000349533.6	+	9	1254	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	LEPR_ENST00000371060.3_Missense_Mutation_p.E357K|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.E357K|LEPR_ENST00000371059.3_Missense_Mutation_p.E357K|LEPR_ENST00000344610.8_Missense_Mutation_p.E357K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	357	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATAAGAAGGAAAACAAGAT	0.358000													13	26					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948560	83948560	+	Splice_Site	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:83948560G>C	ENST00000262430.4	+	5	967		c.e5-1		RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase						acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATGCTTTACAGAGAGAGTTTC	0.493000													57	110					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679256	176679256	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:176679256C>T	ENST00000367662.3	+	11	4759	c.3595C>T	c.(3595-3597)Cat>Tat	p.H1199Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1199					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTACTCCTCTCATGAAGACAA	0.448000													25	94					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101775	81101775	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:81101775G>A	ENST00000228641.3	+	1	499	c.277G>A	c.(277-279)Gac>Aac	p.D93N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	93					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGCCCCCACTGACCGGCGAAA	0.622000													23	56					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151231080	151231080	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:151231080G>A	ENST00000274576.4	-	7	1075	c.783C>T	c.(781-783)ctC>ctT	p.L261L	GLRA1_ENST00000545569.1_Silent_p.L178L|GLRA1_ENST00000455880.2_Silent_p.L261L|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	261					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGATGACAATGAGCAGGCTGG	0.522000													36	75					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821418	43821418	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43821418G>A	ENST00000382031.1	+	5	8492	c.8461G>A	c.(8461-8463)Gag>Aag	p.E2821K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E2583K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2583K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2583						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.E2583K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTGACCCCGAGGGGCTCAG	0.667000													24	36					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152814277	152814277	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:152814277C>G	ENST00000370186.1	+	8	1587	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	ATP2B3_ENST00000393842.1_Missense_Mutation_p.L421V|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L435V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L421V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L435V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L435V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	435					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCTGCCTCTTGCTGTCAC	0.483000													24	13					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155651	103155651	+	Missense_Mutation	SNP	A	A	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:103155651A>T	ENST00000428762.1	-	50	8259	c.8100T>A	c.(8098-8100)ttT>ttA	p.F2700L	RELN_ENST00000343529.5_Missense_Mutation_p.F2700L|RELN_ENST00000424685.2_Missense_Mutation_p.F2700L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2700					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTCTTCCATAAACATGTCAA	0.498000													9	29					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37639041	37639041	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:37639041C>T	ENST00000252011.3	+	13	1374	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	DHX35_ENST00000373325.2_Silent_p.F447F|DHX35_ENST00000373323.4_Silent_p.F416F	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	447						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGTTCCACTTCATGTCGGTAA	0.527000													18	30					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928115	113928115	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:113928115G>C	ENST00000348367.4	-	11	1259	c.1062C>G	c.(1060-1062)atC>atG	p.I354M	GPAM_ENST00000369425.1_Missense_Mutation_p.I354M|GPAM_ENST00000423155.1_Missense_Mutation_p.I354M			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	354					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GATCATAGGAGATTCCAACAG	0.403000													23	42					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99220256	99220256	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:99220256G>A	ENST00000394152.2	+	6	1001	c.674G>A	c.(673-675)gGa>gAa	p.G225E	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.G225E|ZSCAN25_ENST00000262941.6_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TTTACTGCTGGATCGCAGGTG	0.542000													38	61					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118045	194118045	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:194118045G>A	ENST00000401815.1	-	1	1038	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	GP5_ENST00000323007.3_Silent_p.L323L			P40197	GPV_HUMAN	glycoprotein V (platelet)	323					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCGGGCTCAGAGTCACCCCT	0.731000													15	23					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76621147	76621147	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:76621147G>A	ENST00000261530.7	+	2	507	c.441G>A	c.(439-441)ctG>ctA	p.L147L	GPATCH2L_ENST00000556663.1_Silent_p.L147L|GPATCH2L_ENST00000312858.5_Silent_p.L147L|GPATCH2L_ENST00000557263.1_Silent_p.L147L	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		AGCAGAAGCTGAAGGTGTCAG	0.542000													15	45					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754080	140754080	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:140754080G>C	ENST00000517434.1	+	1	430	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATTCTCGAAAACGCAGC	0.423000													29	46					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92469996	92469996	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:92469996C>T	ENST00000370389.2	+	17	3119	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	BRDT_ENST00000394530.3_Missense_Mutation_p.S759L|BRDT_ENST00000399546.2_Missense_Mutation_p.S805L|BRDT_ENST00000402388.1_Missense_Mutation_p.S805L|BRDT_ENST00000362005.3_Missense_Mutation_p.S805L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AATGCAGATTCATGGAAAAGT	0.328000													28	54					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80014847	80014847	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80014847C>T	ENST00000392358.2	+	12	1855	c.1506C>T	c.(1504-1506)gtC>gtT	p.V502V	GPS1_ENST00000578552.1_Silent_p.V462V|GPS1_ENST00000306823.6_Silent_p.V466V|GPS1_ENST00000355130.2_Silent_p.V502V|GPS1_ENST00000320548.4_Silent_p.V446V	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	466					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGATCCATGTCAAGGTGGGCT	0.652000													30	43					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133883682	133883682	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:133883682G>C	ENST00000220616.4	+	4	404	c.364G>C	c.(364-366)Gat>Cat	p.D122H	TG_ENST00000377869.1_Missense_Mutation_p.D122H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	122	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGTGTCAGGATTCAGGGGA	0.552000													30	78					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7585784	7585784	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7585784G>C	ENST00000597229.1	+	2	1826	c.1656G>C	c.(1654-1656)gaG>gaC	p.E552D	ZNF358_ENST00000394341.2_Missense_Mutation_p.E552D	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	552					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTACCGGCGAGAGTCCAGAGT	0.652000													15	99					0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395432	67395432	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67395432C>T	ENST00000376693.2	-	4	705	c.696G>A	c.(694-696)ctG>ctA	p.L232L	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	232						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GACCTTTATTCAGTCCTGGAG	0.642000													13	34					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71510692	71510692	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:71510692G>A	ENST00000359244.4	+	5	520	c.497G>A	c.(496-498)tGa>tAa	p.*166*	FAM86C1_ENST00000346333.6_Silent_p.*132*|FAM86C1_ENST00000528685.1_3'UTR|FAM86C1_ENST00000426628.2_Silent_p.*159*	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						TGGCAAAGCTGAACCTCACAC	0.468000													25	38					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94768086	94768086	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:94768086G>A	ENST00000453321.3	+	2	362	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	102					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAAGTGCCCAGAAAACATGGT	0.249000													4	12					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180022904	180022904	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:180022904C>G	ENST00000367607.3	+	24	5427	c.5009C>G	c.(5008-5010)tCa>tGa	p.S1670*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1670						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGCCATTCTCAGGAGGACAA	0.383000													11	141					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708139	106708139	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:106708139C>G	ENST00000546625.1	+	3	320	c.161C>G	c.(160-162)aCa>aGa	p.T54R	TCP11L2_ENST00000547153.1_Missense_Mutation_p.T54R|TCP11L2_ENST00000299045.3_Missense_Mutation_p.T54R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	54	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CTTTCAGCAACAAGCCCTCCA	0.378000													22	62					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113653302	113653302	+	Missense_Mutation	SNP	G	G	A	rs74551540		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113653302G>A	ENST00000358160.4	+	13	1868	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R292K|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R188K|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R254K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	459						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTGAAATACAGAAAACAGCCA	0.299000													30	130					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33256651	33256651	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:33256651G>A	ENST00000374617.4	-	2	565	c.209C>T	c.(208-210)tCt>tTt	p.S70F	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	70										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						AGGCTTCTTAGAGATCCGAGA	0.577000													22	53					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100017517	100017517	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:100017517C>T	ENST00000260702.3	-	8	1300	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	384	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGGGTCCGCTCATATCCCCTG	0.592000													39	64					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250565	28250565	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:28250565G>A	ENST00000305242.5	-	10	1410	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	ARMC4_ENST00000239715.3_Missense_Mutation_p.R297C|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.R132C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	440							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTCCTGACGATGGTCAGGT	0.398000													15	36					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796071	39796071	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:39796071C>G	ENST00000553728.1	+	24	3494	c.3281C>G	c.(3280-3282)tCa>tGa	p.S1094*	CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.S530*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.S559*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.S530*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.S564*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.S559*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.S547*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.S479*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.S530*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.S516*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.S484*																							TAATTAGGCTCACGAGGCCCA	0.358000													25	38					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614691	247614691	+	Silent	SNP	C	C	T	rs141488287		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:247614691C>T	ENST00000318749.6	-	1	617	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	198			V -> M (in dbSNP:rs6695302).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTGTCATTCACAGCGGTGT	0.572000													17	45					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82451948	82451948	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:82451948G>A	ENST00000423517.2	-	20	14991	c.14654C>T	c.(14653-14655)tCa>tTa	p.S4885L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4885L|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4747					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTTCTGATGATGATTTTGA	0.488000													76	241					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	299394	299394	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:299394C>T	ENST00000390665.3	-	12	1540	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	508					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTACTCCTCGGCCGCGTAC	0.711000													10	23					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457825	98457825	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:98457825G>A	ENST00000450876.1	-	3	1591	c.276C>T	c.(274-276)ctC>ctT	p.L92L	TMEM130_ENST00000546258.1_Silent_p.L157L|TMEM130_ENST00000416379.2_Silent_p.L176L|TMEM130_ENST00000345589.4_Silent_p.L74L|TMEM130_ENST00000339375.4_Silent_p.L176L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	176						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGCTGTAGAGAAACAAGG	0.607000													25	22					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105692409	105692409	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105692409C>G	ENST00000546474.1	-	10	16004	c.1045G>C	c.(1045-1047)Gat>Cat	p.D349H	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D322H|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.D234H|BRF1_ENST00000446501.2_Missense_Mutation_p.D111H|BRF1_ENST00000392557.4_Missense_Mutation_p.D145H|BRF1_ENST00000440513.3_Missense_Mutation_p.D234H	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	349					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GACTCACCATCTTTTGCCAGG	0.498000													31	53					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741391	196741391	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:196741391G>C	ENST00000312428.6	-	37	6094	c.5994C>G	c.(5992-5994)atC>atG	p.I1998M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1998	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGGTTTGTAGATTTCCTTAT	0.294000													14	33					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28380685	28380685	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:28380685C>T	ENST00000261609.7	-	79	12277	c.12169G>A	c.(12169-12171)Gaa>Aaa	p.E4057K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4057					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTCTCCTTCTGAAGACAGG	0.438000													37	98					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129770159	129770159	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:129770159C>T	ENST00000226319.6	+	5	601	c.321C>T	c.(319-321)ctC>ctT	p.L107L	PHF17_ENST00000511647.1_Silent_p.L107L|PHF17_ENST00000413543.2_Silent_p.L107L|PHF17_ENST00000452328.2_Intron|PHF17_ENST00000512960.1_Silent_p.L107L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		107					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGAAATCCCTCATGTTCATCA	0.517000													36	74					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648351	130648351	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:130648351C>A	ENST00000539839.1	+	1	1348	c.766C>A	c.(766-768)Cgc>Agc	p.R256S	FZD10_ENST00000229030.4_Silent_p.I288I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGAGAGCATCGCCTGCGACC	0.642000													40	100					2.45108e-15	2.55558e-15	1	1	0
F7	2155	broad.mit.edu	37	13	113772867	113772867	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:113772867G>C	ENST00000375581.3	+	9	981	c.946G>C	c.(946-948)Gac>Cac	p.D316H	F7_ENST00000541084.1_Missense_Mutation_p.D247H|F7_ENST00000346342.3_Missense_Mutation_p.D294H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	316	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	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)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGTCCTCACTGACCATGTGGT	0.677000													22	43					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20844028	20844028	+	Splice_Site	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:20844028C>T	ENST00000262715.5	-	43	6290		c.e43-1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGAGGAGACTCTGGATAGGCC	0.567000													11	30					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14773978	14773978	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:14773978G>C	ENST00000261170.3	-	23	2910	c.2774C>G	c.(2773-2775)tCt>tGt	p.S925C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	925	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCCATACCAGAGTGAACTCC	0.468000													8	26					0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43786545	43786545	+	Silent	SNP	G	G	A	rs142874600		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr21:43786545G>A	ENST00000291527.2	-	1	158	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	20					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity	p.L20L(1)		cervix(1)|lung(1)	2						CCAGGGTGCCGAGGGCCAGCA	0.637000													9	18					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18217963	18217963	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:18217963C>T	ENST00000321105.5	-	1	344	c.130G>A	c.(130-132)Gac>Aac	p.D44N	TOP3A_ENST00000542570.1_5'UTR|TOP3A_ENST00000582230.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	44	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGCCGCGTCGTTTTTTTCG	0.652000													8	32					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132222058	132222058	+	Splice_Site	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:132222058G>A	ENST00000260818.6	+	41	4965	c.4716_splice	c.e41-1	p.E1573_splice		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1573							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTATAACAGGAGGTAGCAAA	0.363000													14	45					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287534	42287534	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:42287534C>T	ENST00000302904.4	-	15	2076	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	UBTF_ENST00000527034.1_Silent_p.L491L|UBTF_ENST00000343638.5_Silent_p.L491L|UBTF_ENST00000526094.1_Silent_p.L491L|UBTF_ENST00000436088.1_Silent_p.L528L|UBTF_ENST00000529383.1_Silent_p.L528L|UBTF_ENST00000533177.1_Silent_p.L491L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Silent_p.L491L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	528					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAATCCACATCAGTTTCTCCT	0.507000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	141					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293436	145293436	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145293436G>A	ENST00000342960.5	+	1	66	c.31G>A	c.(31-33)Gag>Aag	p.E11K	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.E11K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	11										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTGGTCCAGTGAGAAGGCAGA	0.488000													52	742					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53046592	53046592	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53046592C>T	ENST00000359798.4	+	3	235	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGGCATGGCTCTTCCTCAGGT	0.373000													12	143					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437484	179437484	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179437484C>T	ENST00000589042.1	-	326	73599	c.73375G>A	c.(73375-73377)Gag>Aag	p.E24459K	TTN_ENST00000460472.2_Missense_Mutation_p.E15394K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21891K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15519K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22818K|TTN_ENST00000342175.6_Missense_Mutation_p.E15586K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22818	Fibronectin type-III 78.						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)			CACTTCACCTCAGGTGCAGGC	0.468000													21	56					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837639	124837639	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:124837639G>A	ENST00000423114.2	-	8	972	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	SLC12A8_ENST00000469902.1_Missense_Mutation_p.R296C|SLC12A8_ENST00000393469.4_Missense_Mutation_p.R296C|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R97C|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R49C|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	296					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AAGTCATAGCGAAGGGCCTCT	0.542000													5	31					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405724	94405724	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:94405724G>A	ENST00000555019.1	-	8	1777	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ASB2_ENST00000556337.1_5'UTR|ASB2_ENST00000315988.4_Silent_p.I401I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	401					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGCCGTGGCGGATGGCCACGA	0.662000													19	56					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946092	138946092	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:138946092G>A	ENST00000288561.8	+	6	1000	c.751G>A	c.(751-753)Gag>Aag	p.E251K	UBN2_ENST00000473989.2_Missense_Mutation_p.E334K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	334										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTCCAGAAAGAGAAGGATGC	0.423000													13	21					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695755	109695755	+	Missense_Mutation	SNP	C	C	T	rs146389599		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:109695755C>T	ENST00000465301.2	+	3	2156	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S637F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	637										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACCACAGCTTCTGAAGCAATG	0.507000													35	20					0	0	1	0	0
NAA50	80218	broad.mit.edu	37	3	113440619	113440619	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113440619C>T	ENST00000240922.2	-	5	822	c.498G>A	c.(496-498)aaG>aaA	p.K166K	NAA50_ENST00000497255.1_Silent_p.K55K|NAA50_ENST00000497525.1_Silent_p.K92K|NAA50_ENST00000493900.1_Silent_p.K165K|NAA50_ENST00000493454.1_Silent_p.K92K|NAA50_ENST00000477813.1_Silent_p.K126K	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	166					N-terminal protein amino acid acetylation	cytoplasm	N-acetyltransferase activity|protein binding			large_intestine(2)|lung(2)|skin(1)	5						AGTTGTCTGTCTTTTGCACAT	0.428000													61	89					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82575232	82575232	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:82575232G>T	ENST00000339465.5	+	3	1095	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.K327N	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	342										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTGCTTTTAAGAGTTCTGTTC	0.403000													19	40					2.94398e-08	3.01688e-08	1	1	0
SEC22B	9554	broad.mit.edu	37	1	145112502	145112502	+	RNA	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145112502G>A	ENST00000453618.1	+	0	803							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GTGTTACAACGAGGAGAAGCA	0.413000													6	92					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7628157	7628157	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:7628157G>C	ENST00000340080.4	+	8	2268	c.1847G>C	c.(1846-1848)aGa>aCa	p.R616T	MIOS_ENST00000405785.1_Missense_Mutation_p.R616T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	616								p.R616T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTACGTGACAGAGTGGCATTT	0.343000													15	51					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51381452	51381452	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:51381452G>C	ENST00000216392.7	-	12	1817	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	PYGL_ENST00000532462.1_Silent_p.L495L|PYGL_ENST00000544180.2_Silent_p.L461L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	495					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CTGGGTTGCAGAGTAGGAGCC	0.493000													23	41					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3893244	3893244	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:3893244G>C	ENST00000497424.1	+	4	813	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Missense_Mutation_p.E459Q	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	459					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGGGACTATGAGAGGTTTGG	0.502000													27	74					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18588119	18588119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:18588119G>A	ENST00000399799.1	-	14	2387	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	483	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.Q483E(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTCAATCTGAGACACTGTA	0.333000													5	20					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394950	94394950	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:94394950G>C	ENST00000267594.5	+	3	812	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	FAM181A_ENST00000557000.2_Missense_Mutation_p.E107Q|FAM181A_ENST00000557719.1_Missense_Mutation_p.E107Q|FAM181A_ENST00000556222.1_Missense_Mutation_p.E107Q	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	169										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTACAGGGAGGAATGTCTTGC	0.642000													17	40					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76812835	76812835	+	Silent	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:76812835G>T	ENST00000286719.7	-	4	563	c.207C>A	c.(205-207)ctC>ctA	p.L69L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	69					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGATCCATGAGATAGCTGA	0.517000													91	187					1.15966e-41	1.22573e-41	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248309008	248309008	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:248309008C>T	ENST00000366476.1	+	1	559	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTACTAATCCTCTCATGCAA	0.413000													13	389					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061761	9061761	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9061761G>A	ENST00000397910.4	-	3	25888	c.25685C>T	c.(25684-25686)tCt>tTt	p.S8562F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8564	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGAGGAAGAGACAGAGCT	0.507000													15	68					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62321792	62321792	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:62321792C>T	ENST00000318100.4	+	26	3238	c.2411C>T	c.(2410-2412)tCa>tTa	p.S804L	RTEL1_ENST00000370003.1_Missense_Mutation_p.S49L|RTEL1_ENST00000370018.3_Missense_Mutation_p.S804L|RTEL1_ENST00000508582.2_Missense_Mutation_p.S828L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S804L|RTEL1_ENST00000360203.5_Missense_Mutation_p.S804L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	804					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGAGGTCCTCAGGTGCGGAC	0.697000													11	14					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177493	7177493	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7177493G>A	ENST00000406697.1	+	15	2233	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	C1S_ENST00000402681.3_Silent_p.L368L|C1S_ENST00000360817.5_Silent_p.L535L|C1S_ENST00000328916.3_Silent_p.L535L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	535	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGGTGCGGCTGAAAGACCCAG	0.527000													6	19					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128446796	128446796	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:128446796G>A	ENST00000297788.4	+	9	1670	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.E382K|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	435						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CGTCACATGTGAGAAGGAAAA	0.592000													8	7					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	802015	802015	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:802015C>T	ENST00000347755.5	-	7	1393	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	PIDD_ENST00000411829.2_Missense_Mutation_p.D418N	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	418	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CAGCTGTTGTCATTCCGGGTC	0.662000													4	4					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117139665	117139665	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:117139665G>A	ENST00000307564.4	-	3	583	c.422C>T	c.(421-423)tCc>tTc	p.S141F	AKNA_ENST00000374075.5_Missense_Mutation_p.S60F|AKNA_ENST00000312033.3_Missense_Mutation_p.S141F|AKNA_ENST00000374088.3_Missense_Mutation_p.S141F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAACCTTGAGGAGCTCTCTCC	0.622000													18	40					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531395	43531395	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:43531395G>C	ENST00000430334.3	-	7	1956	c.1823C>G	c.(1822-1824)tCc>tGc	p.S608C	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S519C	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	608	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GTCCTGGGAGGAGGCGCGCAG	0.642000													22	54					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	972223	972223	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:972223C>T	ENST00000448903.2	+	4	582	c.441C>T	c.(439-441)ttC>ttT	p.F147F	AP2A2_ENST00000332231.5_Silent_p.F147F|AP2A2_ENST00000534328.1_Silent_p.F147F	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	147					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGAGGCCTTCGCCGGGGAGA	0.622000													3	8					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6853020	6853020	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:6853020C>G	ENST00000304076.2	+	24	2290	c.2196C>G	c.(2194-2196)ttC>ttG	p.F732L	VAV1_ENST00000602142.1_Missense_Mutation_p.F754L|VAV1_ENST00000599806.1_Missense_Mutation_p.F699L|VAV1_ENST00000596764.1_Missense_Mutation_p.F722L|VAV1_ENST00000539284.1_Missense_Mutation_p.F657L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	754	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGATTGCTTCAAGTCTCTGG	0.562000													5	47					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93273116	93273116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:93273116C>T	ENST00000163416.2	+	3	836	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.Q194*	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	194					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCATGAAGGTCAAGAGGAATC	0.408000			T	RET	papillary thyroid								15	37					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505742	32505742	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:32505742C>T	ENST00000520502.2	+	1	506	c.506C>T	c.(505-507)tCa>tTa	p.S169L	NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	426	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTGAACCATCAGCGGCACCG	0.517000													8	106					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902704	61902704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:61902704G>A	ENST00000427159.2	-	7	1138	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	165					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCAGAGGCTGATAGTCACGA	0.527000													36	60					0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74649312	74649312	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:74649312G>T	ENST00000348227.4	+	2	120	c.32G>T	c.(31-33)cGa>cTa	p.R11L	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	11										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ATTCCCCTGCGAGGCTCGGCC	0.652000													21	54					1.96292e-10	2.02503e-10	1	1	0
MAN2B2	23324	broad.mit.edu	37	4	6619118	6619118	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:6619118G>A	ENST00000285599.3	+	17	2749	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	MAN2B2_ENST00000504248.1_Missense_Mutation_p.E854K	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	905					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCATCGAGGGGAAGCCCAGGC	0.582000													10	30					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105672938	105672938	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:105672938G>C	ENST00000542731.1	+	19	2561	c.2453G>C	c.(2452-2454)gGa>gCa	p.G818A	CDHR3_ENST00000317716.9_Missense_Mutation_p.G818A|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G730A			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	818					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCACCAGGGAGCTGCCCCA	0.527000													6	37					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027907	19027907	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:19027907C>G	ENST00000421369.3	+	3	675	c.117C>G	c.(115-117)atC>atG	p.I39M	TMC7_ENST00000569532.1_Missense_Mutation_p.I149M|TMC7_ENST00000304381.5_Missense_Mutation_p.I149M	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	149						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGGAGGACATCCGCAGCATAG	0.562000													10	23					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22142484	22142484	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:22142484C>T	ENST00000344642.2	+	3	747	c.560C>T	c.(559-561)tCa>tTa	p.S187L	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.S187L	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	187	LDL-receptor class A.					integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGCATCCCCTCAAGCCTCGTG	0.627000													24	53					0	0	1	0	0
DNAJC4	3338	broad.mit.edu	37	11	63999398	63999398	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:63999398G>A	ENST00000321685.3	+	3	607	c.142G>A	c.(142-144)Gag>Aag	p.E48K	DNAJC4_ENST00000321460.5_Missense_Mutation_p.E48K|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Missense_Mutation_p.E48K|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	48	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						TGCCAGCACTGAGGAAGTTAA	0.557000													22	34					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833595	67833595	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:67833595C>G	ENST00000262345.1	+	10	1986	c.1346C>G	c.(1345-1347)tCt>tGt	p.S449C	IL12RB2_ENST00000544434.1_Missense_Mutation_p.S449C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.S449C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.S449C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	449	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAAGATCCCTCTGCTGTTCAG	0.557000													22	57					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101011994	101011994	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:101011994G>A	ENST00000264249.3	-	6	895	c.510C>T	c.(508-510)ttC>ttT	p.F170F	CHST10_ENST00000542617.1_Silent_p.F218F|CHST10_ENST00000409701.1_Silent_p.F170F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	170					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTGCATCACTGAAGGAAGAGA	0.502000													17	51					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763683	67763683	+	Silent	SNP	T	T	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67763683T>G	ENST00000317506.3	-	9	1162	c.1047A>C	c.(1045-1047)cgA>cgC	p.R349R	RANBP10_ENST00000602677.1_Silent_p.R349R|RANBP10_ENST00000536251.1_Silent_p.R120R|RANBP10_ENST00000448631.2_Silent_p.R293R|RANBP10_ENST00000411657.2_Silent_p.R232R	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	349	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCTCAAACTTCGGACCTCAC	0.597000													14	86					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846842	7846842	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:7846842C>T	ENST00000328375.1	-	1	677	c.678G>A	c.(676-678)ctG>ctA	p.L226L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGCATCTTCAGGATGGTGA	0.468000													18	46					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892210	9892210	+	Silent	SNP	A	A	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:9892210A>C	ENST00000396573.2	-	12	2589	c.2280T>G	c.(2278-2280)ggT>ggG	p.G760G	GRIN2A_ENST00000396575.2_Silent_p.G760G|GRIN2A_ENST00000562109.1_Silent_p.G760G|GRIN2A_ENST00000404927.2_Silent_p.G760G|GRIN2A_ENST00000535259.1_Silent_p.G603G|GRIN2A_ENST00000330684.3_Silent_p.G760G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	760					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)	CAATTCCATAACCGGTGGTGG	0.542000													12	22					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38478530	38478530	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:38478530G>A	ENST00000373014.4	+	1	117	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	UTP11L_ENST00000537711.1_Missense_Mutation_p.R19Q	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	19					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACAGAGAGCGAAGCCAGGTA	0.612000													43	107					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166501	32166501	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:32166501C>T	ENST00000375023.3	-	25	4680	c.4542G>A	c.(4540-4542)ctG>ctA	p.L1514L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1514					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCTTTGGCTTCAGTGCCCTGG	0.557000													6	12					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47322138	47322138	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:47322138G>C	ENST00000285093.10	-	4	901	c.426C>G	c.(424-426)atC>atG	p.I142M	ACAA2_ENST00000589432.1_Missense_Mutation_p.I87M|ACAA2_ENST00000587994.1_Missense_Mutation_p.I139M	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	142					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						TTCCAACCTTGATATCTGATC	0.338000													8	21					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41828570	41828570	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41828570G>A	ENST00000269967.3	+	5	1104	c.982G>A	c.(982-984)Gat>Aat	p.D328N		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	328										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GAGGTACTTTGATGAGGAAGA	0.617000													30	59					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62025372	62025372	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:62025372C>G	ENST00000435607.1	-	17	3272	c.3196G>C	c.(3196-3198)Gaa>Caa	p.E1066Q	SCN4A_ENST00000578147.1_Missense_Mutation_p.E1066Q	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1066					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCGGCATATTCTAGGATGGTG	0.572000													25	35					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49949532	49949532	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:49949532C>G	ENST00000257981.6	+	12	2526	c.2266C>G	c.(2266-2268)Cct>Gct	p.P756A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	756					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCTGTCCCCTGGCTGCAC	0.667000													3	37					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169758992	169758992	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:169758992G>C	ENST00000375363.3	+	2	348	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	G6PC2_ENST00000429379.2_Missense_Mutation_p.E86Q|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	86					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTGGGTCCAAGAAACTCAGAT	0.368000													7	47					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235412	57235412	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:57235412C>G	ENST00000335099.3	+	2	679	c.362C>G	c.(361-363)tCg>tGg	p.S121W	RTN4RL2_ENST00000533205.1_Missense_Mutation_p.S121W|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.S121W	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	121					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CACCTGCGCTCGCTGGAGCCC	0.647000													29	76					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492275	87492275	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:87492275G>A	ENST00000296595.6	-	12	1341	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	TMEM161B_ENST00000506536.1_Silent_p.L192L|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S197F|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S395F|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S406F	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	406						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGTAGAGATAGATTCTGGATA	0.318000													15	30					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38816451	38816451	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:38816451C>T	ENST00000359357.3	+	35	4676	c.4422C>T	c.(4420-4422)atC>atT	p.I1474I	DNAH8_ENST00000441566.1_Silent_p.I1474I|DNAH8_ENST00000449981.2_Silent_p.I1691I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAAAATATCCAGAATTGGG	0.348000													8	35					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35317187	35317187	+	Splice_Site	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:35317187C>G	ENST00000373803.2	-	4	150	c.93_splice	c.e4-1	p.E32_splice	NDRG3_ENST00000359675.2_Splice_Site_p.E20_splice|NDRG3_ENST00000349004.1_Splice_Site_p.E32_splice|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	32				E -> G (in Ref. 3; AAL08807).	cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATATCATGTTCCTGTAACAAG	0.423000													28	36					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160931998	160931998	+	RNA	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:160931998C>T	ENST00000335388.5	-	0	158					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TACCTGATTTCAGAAATAACA	0.348000													36	94					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797520	34797520	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:34797520C>T	ENST00000338074.2	+	15	1940	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Silent_p.F593F|EPB41L1_ENST00000373950.2_Silent_p.F484F|EPB41L1_ENST00000441639.1_Silent_p.F519F|EPB41L1_ENST00000202028.5_Silent_p.F519F|EPB41L1_ENST00000479336.1_3'UTR	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	593					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACACGGTGTTCCTGAAGGACA	0.607000													20	28					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041356	207041356	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:207041356G>C	ENST00000407325.2	-	3	978	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	GPR1_ENST00000437420.1_Missense_Mutation_p.L206V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	206						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ACCCAAGTCAGAACATGGTGC	0.413000													24	52					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478397	14478397	+	RNA	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:14478397C>T	ENST00000581457.1	-	0	1511					NR_024076.1																						CTTCTGGCAGCGGACGTACGG	0.458000													5	11					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163753	141163753	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:141163753G>A	ENST00000514251.1	+	4	2802	c.2523G>A	c.(2521-2523)gtG>gtA	p.V841V	ZBTB38_ENST00000441582.2_Silent_p.V841V|ZBTB38_ENST00000321464.5_Silent_p.V842V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	841					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAATAACAGTGAAAATTGGAA	0.413000													22	76					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379124	54379124	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:54379124G>A	ENST00000303460.4	+	1	155	c.81G>A	c.(79-81)cgG>cgA	p.R27R	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	27					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCTATAGCCGGAGCGCAGGCA	0.612000													61	95					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985872	36985872	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:36985872G>A	ENST00000282516.8	+	10	3089	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D864N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	864					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCAAAAACTGATAAACTAGA	0.423000													5	26					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11618648	11618648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:11618648G>A	ENST00000270517.7	-	6	949	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Silent_p.I202I|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000417981.2_Nonsense_Mutation_p.Q58*	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	272					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCGGCCTGCTGATCGGGACTC	0.632000													14	52					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	993365	993365	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:993365G>A	ENST00000537687.1	+	18	5223	c.4580G>A	c.(4579-4581)cGa>cAa	p.R1527Q	WNK1_ENST00000535572.1_Missense_Mutation_p.R1020Q|WNK1_ENST00000530271.2_Missense_Mutation_p.R1765Q|WNK1_ENST00000315939.6_Missense_Mutation_p.R1267Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R860Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1267					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGAAAGCCGATTACGAGAA	0.408000													11	136					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492802	230492802	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:230492802G>A	ENST00000321327.2	-	4	686	c.687C>T	c.(685-687)ctC>ctT	p.L229L	PGBD5_ENST00000525115.1_Silent_p.L130L|PGBD5_ENST00000391860.1_Silent_p.L84L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	130						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACGAGGGCGAGGCTGCGGT	0.612000													33	39					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200815	62200815	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:62200815G>C	ENST00000467148.1	-	4	843	c.774C>G	c.(772-774)ggC>ggG	p.G258G		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCGGCCGGCGGCCAAAGTCGA	0.667000													13	27					0	0	1	0	0
C6orf62	81688	broad.mit.edu	37	6	24718801	24718801	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:24718801G>A	ENST00000378119.4	-	1	2263	c.96C>T	c.(94-96)ttC>ttT	p.F32F	C6orf62_ENST00000540769.1_Intron|C6orf62_ENST00000378102.3_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	32						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TATACATCTTGAAGTCAAACT	0.358000													15	28					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257955	32257955	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32257955C>T	ENST00000360482.2	-	15	2952	c.2823G>A	c.(2821-2823)caG>caA	p.Q941Q	SPOCD1_ENST00000533231.1_Silent_p.Q941Q|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.Q434Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	941	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCGGCAGTTCTGGGTGTCCC	0.647000													8	34					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69681260	69681260	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:69681260G>C	ENST00000349945.1	+	5	1853	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	NFAT5_ENST00000566899.1_Missense_Mutation_p.E101Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E195Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E195Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.E101Q|NFAT5_ENST00000354436.2_Missense_Mutation_p.E177Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	177					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TATGTGGATGGAGGATTCCCC	0.502000													15	52					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105723	233105723	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:233105723C>T	ENST00000366627.4	+	4	434	c.363C>T	c.(361-363)ttC>ttT	p.F121F	NTPCR_ENST00000366628.4_Silent_p.F121F|NTPCR_ENST00000490098.1_3'UTR			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	121							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						TGGAGCTCTTCAGTCAGCTTT	0.512000													69	78					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307271	46307271	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:46307271C>T	ENST00000357422.2	+	4	1165	c.622C>T	c.(622-624)Ctc>Ttc	p.L208F	CCR3_ENST00000395942.2_Missense_Mutation_p.L208F|CCR3_ENST00000545097.1_Missense_Mutation_p.L229F|CCR3_ENST00000541018.1_Missense_Mutation_p.L208F|CCR3_ENST00000395940.2_Missense_Mutation_p.L208F			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	208					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATCTTCTGTCTCGTTCTCCC	0.468000													34	60					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814521	43814521	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43814521C>T	ENST00000382031.1	+	5	1595	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	MAP1A_ENST00000300231.5_Missense_Mutation_p.R284W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R284W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	284	9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAAAAGCTTCGGCATCTGGA	0.552000													17	36					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49364240	49364240	+	Splice_Site	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:49364240G>A	ENST00000301061.4	-	2	421	c.74_splice	c.e2+1	p.R25_splice	WNT10B_ENST00000407467.1_Splice_Site_p.R25_splice|WNT10B_ENST00000403957.1_Splice_Site_p.R25_splice	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	25					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						ACTGCTCACCGACTGCACAAC	0.687000													7	14					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560477	178560477	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:178560477G>A	ENST00000432997.1	+	5	812	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E154K|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E154K|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E154K	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	154					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AAATTTTGAAGAATCCATGTC	0.398000													19	73					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413417	72413417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:72413417C>G	ENST00000395270.1	+	14	3131	c.2090C>G	c.(2089-2091)tCa>tGa	p.S697*	POM121_ENST00000257622.4_Nonsense_Mutation_p.S697*|POM121_ENST00000446813.1_Nonsense_Mutation_p.S697*|POM121_ENST00000358357.3_Nonsense_Mutation_p.S697*|POM121_ENST00000434423.2_Nonsense_Mutation_p.S962*	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	962	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGCTCCCATCATATCCGGGA	0.672000													16	108					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14003599	14003599	+	Splice_Site	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14003599C>T	ENST00000454313.1	-	5	451	c.393_splice	c.e5+1	p.L131_splice	C19orf57_ENST00000591586.1_Splice_Site_p.L131_splice|C19orf57_ENST00000586783.1_Splice_Site_p.L131_splice|C19orf57_ENST00000346736.2_Splice_Site_p.L131_splice			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	131					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGAGCCTTACCAGGCTAAAGG	0.552000													11	42					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103287982	103287982	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:103287982G>A	ENST00000376052.3	+	12	1455	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	TPP2_ENST00000376065.4_Missense_Mutation_p.R480K			P29144	TPP2_HUMAN	tripeptidyl peptidase II	480					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAGTCAGAAGAGCTCTAGAA	0.358000													14	29					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46444141	46444141	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:46444141C>G	ENST00000263257.5	-	4	653	c.459G>C	c.(457-459)gtG>gtC	p.V153V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	153	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCACGGCTTTCACCGTGGCGC	0.622000													3	36					0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112035584	112035584	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:112035584G>A	ENST00000354650.3	-	5	916	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	FYN_ENST00000229471.4_Missense_Mutation_p.H104Y|FYN_ENST00000368682.3_Missense_Mutation_p.H104Y|FYN_ENST00000356013.2_Missense_Mutation_p.H104Y|FYN_ENST00000538466.1_Missense_Mutation_p.H104Y|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.H104Y|FYN_ENST00000368667.2_Missense_Mutation_p.H104Y	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	104	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCTCCTTTGTGAAAACTCAGG	0.428000													11	28					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122842957	122842957	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:122842957C>G	ENST00000316218.7	+	9	749	c.654C>G	c.(652-654)atC>atG	p.I218M		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	218	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTGAAAACATCAAGGAGGAGT	0.557000													29	52					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17978563	17978563	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:17978563G>A	ENST00000262608.8	+	3	404	c.404G>A	c.(403-405)gGa>gAa	p.G135E	CECR2_ENST00000400573.4_Missense_Mutation_p.G154E|CECR2_ENST00000400585.2_Missense_Mutation_p.G13E|CECR2_ENST00000342247.5_Missense_Mutation_p.G134E	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	176					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAATCCAATGGAGAACTCTCT	0.408000													6	23					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162186	194162186	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:194162186G>C	ENST00000439040.1	-	16	2355	c.1564C>G	c.(1564-1566)Ctt>Gtt	p.L522V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.L522V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	522					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTGGTGAAAGAAATCTAAGC	0.318000													5	76					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40068691	40068691	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:40068691G>C	ENST00000350221.3	-	2	244	c.35C>G	c.(34-36)tCa>tGa	p.S12*	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	12										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGCTGGTTTTGAAATTCCATC	0.353000													20	52					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147803618	147803618	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:147803618G>A	ENST00000340253.5	+	13	1844	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	FBXO38_ENST00000394370.3_Missense_Mutation_p.G559E|FBXO38_ENST00000513826.1_Missense_Mutation_p.G559E|FBXO38_ENST00000296701.6_Missense_Mutation_p.G559E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	559						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGAGAGTGGAAATAATACT	0.403000													30	48					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575539	119575539	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:119575539G>A	ENST00000235521.4	-	6	1104	c.1078C>T	c.(1078-1080)Cta>Tta	p.L360L	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Silent_p.L266L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	360			L -> P (in dbSNP:rs17023101).		tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACTTCCTATAGAAAACCCACC	0.403000													14	38					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63489456	63489456	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:63489456C>G	ENST00000536984.2	+	5	1459	c.765C>G	c.(763-765)gtC>gtG	p.V255V	CDH7_ENST00000397968.2_Silent_p.V255V|CDH7_ENST00000323011.3_Silent_p.V255V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	255	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAACTGATGTCAACGATAATC	0.388000													3	44					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95676361	95676361	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:95676361G>A	ENST00000436874.1	+	8	1374	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	VEZT_ENST00000261219.6_Silent_p.L375L|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	423						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGAGAACTGAATAATGTTC	0.408000													23	60					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22476211	22476211	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:22476211G>T	ENST00000308511.4	+	18	2551	c.2302G>T	c.(2302-2304)Gat>Tat	p.D768Y	KIAA1967_ENST00000389279.3_Missense_Mutation_p.D768Y|KIAA1967_ENST00000520861.1_Missense_Mutation_p.D443Y			Q8N163	K1967_HUMAN		768					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGGGCCTGGATGGTGGCCT	0.637000													36	66					1.84765e-07	1.88622e-07	1	1	0
CTC-260F20.3	0	broad.mit.edu	37	19	19627130	19627130	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:19627130G>T	ENST00000555938.1	+	1	95	c.83G>T	c.(82-84)cGa>cTa	p.R28L	NDUFA13_ENST00000507754.3_Missense_Mutation_p.R28L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R28L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R111L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Missense_Mutation_p.R28L																							TTGCCGCGTCGAGGACTGTCG	0.652000													20	50					2.89027e-11	2.99032e-11	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20563504	20563504	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:20563504G>C	ENST00000329697.6	-	6	1024	c.856C>G	c.(856-858)Cat>Gat	p.H286D	ACSM2B_ENST00000565322.1_Missense_Mutation_p.H207D|ACSM2B_ENST00000567001.1_Missense_Mutation_p.H286D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.H286D|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	286					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCAAGAGATGAACAAATGTG	0.433000													67	110					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198288627	198288627	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:198288627C>G	ENST00000335508.5	-	2	191	c.100G>C	c.(100-102)Gat>Cat	p.D34H	SF3B1_ENST00000487698.1_Missense_Mutation_p.D34H|SF3B1_ENST00000409915.4_Missense_Mutation_p.D34H|SF3B1_ENST00000414963.2_Missense_Mutation_p.D34H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	34					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTGTAGAATCGAGGCCCACT	0.398000			Mis		myelodysplastic syndrome								10	28					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38240145	38240145	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:38240145G>A	ENST00000450525.2	+	5	771	c.280G>A	c.(280-282)Gac>Aac	p.D94N	THRA_ENST00000546243.1_Missense_Mutation_p.D94N|THRA_ENST00000264637.4_Missense_Mutation_p.D94N|THRA_ENST00000394121.4_Missense_Mutation_p.D94N|THRA_ENST00000584985.1_Missense_Mutation_p.D94N	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	94					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTGCAAATATGACAGCTGCTG	0.562000													43	73					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41828573	41828573	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41828573G>A	ENST00000269967.3	+	5	1107	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	329										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GTACTTTGATGAGGAAGAACC	0.617000													32	58					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327563	85327563	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:85327563G>A	ENST00000299927.3	+	1	1679	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	ZNF592_ENST00000560079.2_Missense_Mutation_p.E553K			Q92610	ZN592_HUMAN	zinc finger protein 592	553					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGATTGTAGAGGTCTTCAA	0.592000													27	73					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878881	131878881	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:131878881G>C	ENST00000359827.3	-	14	3758	c.2796C>G	c.(2794-2796)atC>atG	p.I932M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I932M			Q9HCM2	PLXA4_HUMAN	plexin A4	932	IPT/TIG 1.					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						CAGCCACGCAGATCTCCACGA	0.587000													22	38					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760899	130760899	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:130760899C>A	ENST00000276708.4	-	14	2256	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	459						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCCAAACCCTCACTCTGGAGT	0.547000													17	81					2.94398e-08	3.01688e-08	1	1	0
FAM127B	26071	broad.mit.edu	37	X	134185808	134185808	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:134185808C>G	ENST00000370775.2	-	1	397	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	FAM127B_ENST00000520964.1_Intron	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	111										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					TAGAAGTCCTCGTCCTCCTCC	0.647000													17	8					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978282	6978282	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6978282C>T	ENST00000389658.3	-	43	6196	c.6103G>A	c.(6103-6105)Gag>Aag	p.E2035K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2035	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCAGCAGCTCCTGGCTCAGC	0.587000													20	55					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76627240	76627240	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:76627240G>A	ENST00000264917.5	+	5	709	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	PDE8B_ENST00000340978.3_Missense_Mutation_p.E222K|PDE8B_ENST00000346042.3_Missense_Mutation_p.E222K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E222K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E202K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	222					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGATGACCATGAAGAGGCGTC	0.502000													6	176					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466637	179466637	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179466637C>G	ENST00000589042.1	-	285	55498	c.55274G>C	c.(55273-55275)gGa>gCa	p.G18425A	TTN_ENST00000460472.2_Missense_Mutation_p.G9360A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15857A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9485A|TTN_ENST00000591111.1_Missense_Mutation_p.G16784A|TTN_ENST00000342175.6_Missense_Mutation_p.G9552A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16784	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G15857E(2)|p.G9360E(1)|p.G9552E(1)|p.G9485E(1)		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)			GTCATGAACTCCATCCTATTA	0.313000													18	45					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186056718	186056718	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:186056718G>A	ENST00000271588.4	+	60	9533	c.9304G>A	c.(9304-9306)Gag>Aag	p.E3102K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3102K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3102	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATGATAACAGAGTCTACTCA	0.428000													42	135					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269653	16269653	+	Silent	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:16269653G>T	ENST00000375733.2	-	13	1972	c.1734C>A	c.(1732-1734)cgC>cgA	p.R578R	ZBTB17_ENST00000375743.4_Silent_p.R578R|ZBTB17_ENST00000537142.1_Silent_p.R496R			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	578					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCGTGGTGGCGAATATGAT	0.597000													38	83					1.30998e-17	1.36849e-17	1	1	0
CEACAM1	634	broad.mit.edu	37	19	43031509	43031509	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:43031509G>C	ENST00000161559.6	-	2	242	c.108C>G	c.(106-108)ctC>ctG	p.L36L	CEACAM1_ENST00000403444.3_Silent_p.L36L|CEACAM1_ENST00000358394.3_Silent_p.L36L|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Silent_p.L36L|CEACAM1_ENST00000599389.1_Silent_p.L36L|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Silent_p.L36L|CEACAM1_ENST00000308072.4_5'UTR|CEACAM1_ENST00000403461.1_Silent_p.L36L	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	36	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATTCAGTAGTGAGCTGGGCAG	0.498000													78	150					0	0	1	0	0
NAPB	63908	broad.mit.edu	37	20	23358024	23358024	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:23358024C>G	ENST00000377026.4	-	11	971	c.886G>C	c.(886-888)Gac>Cac	p.D296H	NAPB_ENST00000398425.3_Missense_Mutation_p.D202H|NAPB_ENST00000432543.2_Missense_Mutation_p.D257H	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	296					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CATTTTAGGTCTCCATCTCCT	0.428000													7	21					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154188023	154188023	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:154188023G>A	ENST00000336314.4	+	16	2496	c.2472G>A	c.(2470-2472)cgG>cgA	p.R824R		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	901							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATCAGAGCGGAAACGCTTGG	0.498000													10	35					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34050652	34050652	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:34050652G>A	ENST00000262325.7	+	21	3301	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000537622.2_Silent_p.L930L|AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000312678.8_Silent_p.L930L|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	916	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTGTCACTGAAGTGTAGAG	0.423000													15	34					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	20					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457040	6457040	+	Nonstop_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:6457040C>G	ENST00000358945.3	-	13	2515	c.2075G>C	c.(2074-2076)tGa>tCa	p.*692S	SCNN1A_ENST00000540037.1_Nonstop_Mutation_p.*370S|SCNN1A_ENST00000360168.3_Nonstop_Mutation_p.*729S|SCNN1A_ENST00000228916.2_Nonstop_Mutation_p.*670S|SCNN1A_ENST00000543768.1_Nonstop_Mutation_p.*693S|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	0					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTTCCCTCTCAGGGCCCCCC	0.652000													3	7					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725203	10725203	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:10725203C>G	ENST00000377022.3	-	5	759	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.E148Q	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAATCCTTCTCCTCCAGGGCA	0.682000													8	27					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183907896	183907896	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:183907896C>T	ENST00000361927.4	-	12	2251	c.1880G>A	c.(1879-1881)tGa>tAa	p.*627*	COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367521.1_Silent_p.*235*|COLGALT2_ENST00000367520.3_Silent_p.*364*	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AGGGAGCCTTCATAGCTCATC	0.507000													22	46					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39990098	39990098	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:39990098C>T	ENST00000205143.4	+	2	343	c.336C>T	c.(334-336)ttC>ttT	p.F112F	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Silent_p.F112F	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	112					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGTGCCCTTCCGGGACGCCT	0.716000													5	6					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51445895	51445895	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:51445895G>A	ENST00000418425.2	+	3	314	c.295G>A	c.(295-297)Gat>Aat	p.D99N	LETMD1_ENST00000262055.4_Missense_Mutation_p.D99N|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Missense_Mutation_p.D99N|LETMD1_ENST00000550929.1_Missense_Mutation_p.D43N	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	99	LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTTATGGGCTGATGCCAAAAA	0.398000													20	39					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26411340	26411340	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:26411340G>C	ENST00000381655.2	+	29	2936	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E867Q|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	892					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGGAATCTTTGAGAGGTCTTG	0.498000													31	67					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20451748	20451748	+	Nonstop_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:20451748G>C	ENST00000331849.4	+	14	1886	c.1739G>C	c.(1738-1740)tGa>tCa	p.*580S	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	0					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGGGAAATGAGGTGCACCC	0.507000													3	15					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353000													15	38					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2580409	2580409	+	Silent	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2580409G>T	ENST00000413459.3	+	11	1503	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Silent_p.L222L|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Silent_p.L222L	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CACGGGCCGTGAGGCTCCCTG	0.632000													9	14					0.000673444	0.000679762	1	1	0
CCDC57	284001	broad.mit.edu	37	17	80129712	80129712	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80129712C>T	ENST00000392347.1	-	12	1783	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	CCDC57_ENST00000389641.4_Missense_Mutation_p.E583K|CCDC57_ENST00000392343.3_Missense_Mutation_p.E583K|CCDC57_ENST00000327026.3_5'UTR	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	583										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ATTTCTGCTTCAAGGGCCAGA	0.443000													32	81					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388000													6	21					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130465700	130465700	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:130465700C>T	ENST00000368134.2	-	14	2136	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E534K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E510K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E510K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	510										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTTCGTTTTCCTTTTCTTTC	0.373000													21	26					0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220864029	220864029	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:220864029G>A	ENST00000294889.5	+	1	843	c.285G>A	c.(283-285)cgG>cgA	p.R95R		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	95						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		AGAGGTACCGGAGGAAGCTGA	0.736000													4	7					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72003263	72003263	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:72003263G>A	ENST00000370435.4	+	3	483	c.349G>A	c.(349-351)Gac>Aac	p.D117N	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	117						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATATCAAAATGACTTGAGCAA	0.323000													13	14					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111938841	111938841	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:111938841G>C	ENST00000374566.3	-	25	3140	c.2623C>G	c.(2623-2625)Ctg>Gtg	p.L875V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	875						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGCTGCCAGAGAAACAGGT	0.562000													6	37					0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232622	50232622	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:50232622C>T	ENST00000333924.4	-	2	452	c.411G>A	c.(409-411)atG>atA	p.M137I	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	137	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TCCTTTGATTCATGAAGTCCA	0.458000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	68					0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39148610	39148610	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:39148610G>A	ENST00000405510.1	-	3	382	c.24C>T	c.(22-24)ctC>ctT	p.L8L	SUN2_ENST00000411587.2_Silent_p.L43L|SUN2_ENST00000406622.1_Silent_p.L8L|SUN2_ENST00000216064.4_Silent_p.L8L|SUN2_ENST00000405018.1_Silent_p.L8L	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	8	LMNA-binding (By similarity).|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AGTAGCGCGTGAGGCGCTGGC	0.597000													4	23					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081391	157081391	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:157081391C>G	ENST00000362010.2	-	9	1804	c.1497G>C	c.(1495-1497)gaG>gaC	p.E499D	VEPH1_ENST00000392832.2_Missense_Mutation_p.E499D|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.E499D|VEPH1_ENST00000543418.1_Missense_Mutation_p.E499D	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	499						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCTGTGATCTCTCAGTGTCTG	0.418000													8	155					0	0	1	0	0
PEA15	8682	broad.mit.edu	37	1	160181451	160181451	+	Silent	SNP	C	C	T	rs146555291	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:160181451C>T	ENST00000368076.1	+	4	528	c.180C>T	c.(178-180)atC>atT	p.I60I	PEA15_ENST00000360472.4_Silent_p.I39I|PEA15_ENST00000368077.1_Intron|PEA15_ENST00000488858.1_3'UTR			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	39	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGAGGAGATCACTACTGGCA	0.547000													25	79					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37311478	37311478	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:37311478C>G	ENST00000310758.4	-	5	849	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	ELMO1_ENST00000442504.1_Missense_Mutation_p.E68Q|ELMO1_ENST00000448602.1_Missense_Mutation_p.E68Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	68					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTTTTATCTCATTGCGGTTC	0.353000													10	41					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492159	9492159	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9492159G>C	ENST00000541595.2	+	12	1301	c.672G>C	c.(670-672)aaG>aaC	p.K224N	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000589262.1_Missense_Mutation_p.K384N|ZNF177_ENST00000343499.4_Missense_Mutation_p.K224N|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.K224N|ZNF177_ENST00000434737.2_Missense_Mutation_p.K384N	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	224					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CATCCCTTAAGAAACACACAC	0.463000													554	114					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	RNA	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:50474960C>G	ENST00000602139.1	+	0	1035									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597000													4	105					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53046598	53046598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53046598C>T	ENST00000359798.4	+	3	241	c.61C>T	c.(61-63)Cag>Tag	p.Q21*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCTCTTCCTCAGGTGAAGTG	0.378000													13	139					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	rs146268620		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413000													17	54					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221092	56221092	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56221092C>T	ENST00000357606.3	-	3	1640	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	DNAJC14_ENST00000317287.5_Missense_Mutation_p.E451K|RP11-762I7.5_ENST00000546837.1_Silent_p.*80*|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E451K			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	451	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCTGTGGCCTCAACCCCCAGT	0.512000													78	121					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4866542	4866542	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:4866542G>C	ENST00000379333.1	-	7	888	c.496C>G	c.(496-498)Cag>Gag	p.Q166E	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.Q166E	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	166					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACTGGCCTGAAACAGGGGT	0.433000													10	18					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169571586	169571586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:169571586C>T	ENST00000305747.6	+	7	1272	c.685C>T	c.(685-687)Cga>Tga	p.R229*	CERS6_ENST00000392687.4_Nonsense_Mutation_p.R229*	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.R229R(1)									CAATATGGCCCGAGTAGGAAC	0.373000													33	70					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517849	85517849	+	Splice_Site	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:85517849G>C	ENST00000393217.2	+	17	3620	c.3557_splice	c.e17-1	p.D1187_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1187										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTGTTCAGAGATGTATTTAC	0.323000													13	21					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040556	247040556	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:247040556C>T	ENST00000366508.1	-	22	2950	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	AHCTF1_ENST00000391829.2_Silent_p.L903L|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.L912L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	903	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCTCTATATTCAACCTATTGC	0.358000													14	58					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46696241	46696241	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:46696241G>C	ENST00000299138.7	-	15	2039	c.1981C>G	c.(1981-1983)Cta>Gta	p.L661V		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	661					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTTTCTTTAGAAGTTTGGAT	0.488000													22	38					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10439886	10439886	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:10439886C>G	ENST00000245503.5	-	17	2319	c.1935G>C	c.(1933-1935)aaG>aaC	p.K645N	MYH2_ENST00000397183.2_Missense_Mutation_p.K645N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K645N|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	645	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGAGCCCTTCTTCTTACCAC	0.413000													6	22					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993286	36993286	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:36993286G>A	ENST00000217407.2	+	8	962	c.801G>A	c.(799-801)atG>atA	p.M267I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	267				VMSLP -> A (in Ref. 1; AAA59493).	acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCAGTCATGAGCCTTCCTG	0.463000													46	105					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58577812	58577812	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58577812C>T	ENST00000083182.3	-	2	462	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	59					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TCACAAAATTCACTGCCCAGT	0.249000													11	27					0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109740403	109740403	+	Silent	SNP	A	A	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:109740403A>C	ENST00000521072.2	-	6	1255	c.675T>G	c.(673-675)ggT>ggG	p.G225G	PPIL6_ENST00000440797.2_Silent_p.G225G|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Silent_p.G193G	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	225	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CAAATGTTGGACCATAAATCG	0.289000													13	35					0	0	1	0	0
EPCAM	4072	broad.mit.edu	37	2	47600696	47600696	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:47600696C>T	ENST00000263735.4	+	2	529	c.171C>T	c.(169-171)gtC>gtT	p.V57V	EPCAM_ENST00000405271.1_Silent_p.V85V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	57					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AAAATACTGTCATTTGCTCAA	0.348000													6	17					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409745	105409745	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105409745C>T	ENST00000333244.5	-	7	12162	c.12043G>A	c.(12043-12045)Gac>Aac	p.D4015N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4015						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGCTGAGGTCAGTGGCCTTG	0.657000													73	153					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823825	176823825	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176823825C>G	ENST00000324417.5	+	11	1357	c.1266C>G	c.(1264-1266)ttC>ttG	p.F422L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	422					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCTGTGTTCACCTCGGCCA	0.632000													27	41					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103406451	103406451	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:103406451G>A	ENST00000361246.2	-	32	4811	c.4523C>T	c.(4522-4524)tCt>tTt	p.S1508F		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1508	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGTGCCTTCAGAGTTCAGGGG	0.617000													27	42					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17249276	17249276	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:17249276C>G	ENST00000375541.5	+	2	248	c.179C>G	c.(178-180)tCc>tGc	p.S60C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	60					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCAACCTCTCCCAGCCTGAG	0.612000													27	110					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473895	53473895	+	RNA	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53473895C>T	ENST00000600068.1	-	0	470				ZNF702P_ENST00000270443.4_RNA																							TTTTTTATCTCTGTCATGAGT	0.378000													29	70					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													5	241					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375290	8375290	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:8375290C>G	ENST00000538603.1	-	7	1081	c.523G>C	c.(523-525)Gac>Cac	p.D175H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D175H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	175							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGCCCCTGTCAGACATTTCG	0.572000													6	66					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43017724	43017724	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43017724C>G	ENST00000356231.3	-	26	3436	c.3413G>C	c.(3412-3414)aGa>aCa	p.R1138T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1138						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCCCACATTTCTTGGGCTCAG	0.587000													29	50					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48092436	48092436	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:48092436C>G	ENST00000348904.3	+	7	957	c.745C>G	c.(745-747)Cag>Gag	p.Q249E	C7orf57_ENST00000539619.1_Missense_Mutation_p.Q249E|C7orf57_ENST00000430738.1_Missense_Mutation_p.Q294E|C7orf57_ENST00000420324.1_Missense_Mutation_p.Q278E|C7orf57_ENST00000435376.1_Missense_Mutation_p.Q111E	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	249										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGTGTTATCTCAGTCCCCACG	0.572000													21	20					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131179784	131179784	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:131179784C>G	ENST00000357668.1	-	10	934	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.E303Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	303					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCACTTACTTCTTTCTGATCC	0.383000													58	219					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7022144	7022144	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7022144G>A	ENST00000007969.8	+	7	1229	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000443597.2_Missense_Mutation_p.E337K|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	337										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GCGTGACCTGGAACCCGAACA	0.557000													56	194					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79785418	79785418	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:79785418G>A	ENST00000372371.3	-	3	417	c.280C>T	c.(280-282)Cat>Tat	p.H94Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	94					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TACCCTACATGAAAACACGGC	0.483000													29	75					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105322118	105322118	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:105322118C>T	ENST00000258538.3	-	1	315	c.188G>A	c.(187-189)gGc>gAc	p.G63D		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	63						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTGCCAAATGCCGTTTGCTTT	0.373000													14	14					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111956212	111956212	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:111956212G>A	ENST00000377617.3	-	9	1647	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	ATXN2_ENST00000542287.2_Missense_Mutation_p.P231S|ATXN2_ENST00000550104.1_Missense_Mutation_p.P496S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P231S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P207S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	496					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTTTGTCCAGGAGGAATATAT	0.418000													13	43					0	0	1	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10206706	10206706	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:10206706G>A	ENST00000253109.4	-	2	772	c.534C>T	c.(532-534)atC>atT	p.I178I	ANGPTL6_ENST00000589181.1_Silent_p.I178I|ANGPTL6_ENST00000592641.1_Silent_p.I178I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	178					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGGCGGGCGATGAGACTGC	0.697000													5	28					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169125439	169125439	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:169125439C>T	ENST00000256935.8	+	11	1121	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	347					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAGCACTTCATTCCTTTTC	0.418000													13	30					0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460260	32460260	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:32460260G>C	ENST00000306901.3	+	10	1207	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	CHRNA7_ENST00000454250.3_Missense_Mutation_p.E399D|CHRNA7_ENST00000455693.2_Missense_Mutation_p.E189D	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	370					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CCAGTGTGGAGATGAGCGCCG	0.706000													26	96					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112937	108112937	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:108112937C>T	ENST00000273353.3	-	37	5316	c.5260G>A	c.(5260-5262)Gaa>Aaa	p.E1754K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1754						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1754K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACCTCTTCAGCTTCTTTC	0.498000													22	140					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463178	26463178	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:26463178G>C	ENST00000265944.5	+	30	4151	c.3985G>C	c.(3985-3987)Gag>Cag	p.E1329Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1329					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAGGCATGAGACAGTCAA	0.488000													11	93					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035787	125035787	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:125035787C>T	ENST00000522917.1	+	18	2443	c.2237C>T	c.(2236-2238)gCg>gTg	p.A746V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A746V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	746						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCCCTGTCGCGGGGCAGATG	0.493000													25	117					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756481	94756481	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:94756481C>G	ENST00000554723.1	-	2	988	c.570G>C	c.(568-570)gaG>gaC	p.E190D	SERPINA10_ENST00000554173.1_Missense_Mutation_p.E150D|SERPINA10_ENST00000393096.1_Missense_Mutation_p.E150D|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E150D			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	150					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGAGAGGGTCTCTCTGAGTC	0.542000													29	56					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145110403	145110403	+	Missense_Mutation	SNP	G	G	A	rs148004522		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:145110403G>A	ENST00000367545.3	+	61	8908	c.8908G>A	c.(8908-8910)Gaa>Aaa	p.E2970K	UTRN_ENST00000367526.4_Missense_Mutation_p.E525K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2970	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTCTTGGAAGAAAAATACAG	0.284000													24	64					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77267946	77267946	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:77267946C>T	ENST00000248594.6	+	17	2451	c.2179C>T	c.(2179-2181)Cca>Tca	p.P727S	PTPN12_ENST00000415482.2_Missense_Mutation_p.P608S|PTPN12_ENST00000435495.2_Missense_Mutation_p.P597S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	727						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CTTAGATCATCCAGCGGGAGG	0.348000													57	48					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138651777	138651777	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:138651777C>G	ENST00000394800.2	+	9	1578	c.1029C>G	c.(1027-1029)ttC>ttG	p.F343L	MATR3_ENST00000503811.1_Missense_Mutation_p.F55L|MATR3_ENST00000510056.1_Missense_Mutation_p.F343L|MATR3_ENST00000502929.1_Missense_Mutation_p.F343L|MATR3_ENST00000502499.1_Missense_Mutation_p.F5L|MATR3_ENST00000394805.3_Missense_Mutation_p.F343L|MATR3_ENST00000504203.1_Missense_Mutation_p.F5L|MATR3_ENST00000361059.2_Missense_Mutation_p.F343L|MATR3_ENST00000509990.1_Missense_Mutation_p.F343L			P43243	MATR3_HUMAN	matrin 3	343						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGATCCATTCATGTTGCAGC	0.408000													4	81					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117589564	117589564	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:117589564G>A	ENST00000326274.5	+	2	491	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	VGLL2_ENST00000352536.3_Missense_Mutation_p.E101K	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	101					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGTGGTGGATGAACATTTCAG	0.582000													32	62					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73986766	73986766	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:73986766C>G	ENST00000358602.4	-	20	3797	c.3681G>C	c.(3679-3681)atG>atC	p.M1227I	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.M1114I|ANKRD17_ENST00000330838.6_Missense_Mutation_p.M976I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1227					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATGCCCATTCATAGCTGCTA	0.428000													29	89					0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5081503	5081503	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:5081503G>A	ENST00000379286.2	-	5	717	c.297C>T	c.(295-297)atC>atT	p.I99I	TMEM230_ENST00000379279.2_Silent_p.I99I|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Silent_p.I99I|TMEM230_ENST00000342308.5_Silent_p.I162I|TMEM230_ENST00000379277.2_Silent_p.I99I|TMEM230_ENST00000379283.2_Silent_p.I99I	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	99						integral to membrane											CATAGTAAGCGATGCGCAGGT	0.537000											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	57					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472305	23472305	+	Translation_Start_Site	SNP	A	A	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:23472305A>G	ENST00000246012.1	+	2	358	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	1						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCAAGGGACCATGCCCAGGTG	0.617000													5	112					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943334	232943334	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:232943334C>T	ENST00000418460.1	+	1	2692	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CTGAAGATTTCTGTACCAGTG	0.368000													5	23					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60683575	60683575	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:60683575C>G	ENST00000582809.1	+	21	2200	c.1497C>G	c.(1495-1497)atC>atG	p.I499M	TLK2_ENST00000326270.9_Missense_Mutation_p.I670M|TLK2_ENST00000346027.5_Missense_Mutation_p.I648M|TLK2_ENST00000343388.7_Missense_Mutation_p.I616M|TLK2_ENST00000542523.1_Missense_Mutation_p.I616M			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	670	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TGGGTGTGATCTTCTATCAGT	0.433000													7	23					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101007	50101007	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:50101007G>C	ENST00000298292.8	-	1	941	c.861C>G	c.(859-861)atC>atG	p.I287M	DNAAF2_ENST00000406043.3_Missense_Mutation_p.I287M	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	287					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GCGGCAGTTCGATGGTGATCA	0.657000													14	44					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965769	7965769	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7965769G>A	ENST00000306708.6	+	3	2463	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	788						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCTGCCGGCAGAAGTGCGGGA	0.567000													19	96					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593142	11593142	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:11593142G>A	ENST00000262442.3	+	20	4071	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1335K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1335	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATGGAGTTGGAGTGCAAACA	0.562000													9	8					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745500	54745500	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:54745500G>T	ENST00000440558.2	-	4	658	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	LILRA6_ENST00000419410.2_Missense_Mutation_p.P204T|LILRA6_ENST00000245621.5_Missense_Mutation_p.P204T|LILRA6_ENST00000270464.5_Missense_Mutation_p.P204T|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.P204T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACCCGGGGGGTGTTTGTA	0.617000													44	130					2.43468e-25	2.55333e-25	1	1	0
OSGEPL1	64172	broad.mit.edu	37	2	190618706	190618706	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:190618706C>G	ENST00000519810.1	-	6	1241	c.899G>C	c.(898-900)aGa>aCa	p.R300T	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R300T|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.R300T			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	300					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CCGATGTGTTCTTTTCACAAG	0.403000													9	21					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28359761	28359761	+	Missense_Mutation	SNP	T	T	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:28359761T>C	ENST00000261609.7	-	90	14018	c.13910A>G	c.(13909-13911)tAt>tGt	p.Y4637C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4637	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCAACCTATAGTTTATCGC	0.502000													14	32					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964455	7964455	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7964455G>A	ENST00000306708.6	+	3	1149	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	350						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGCGGGAGGAGACTGGCAT	0.562000													19	93					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21998612	21998612	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:21998612G>A	ENST00000261200.4	-	24	3020	c.3021C>T	c.(3019-3021)gtC>gtT	p.V1007V	ABCC9_ENST00000345162.2_Silent_p.V971V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.V1007V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1007	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGCTACAATGACCGAATGCT	0.428000													15	32					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19449587	19449587	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:19449587C>T	ENST00000338883.4	-	7	1134	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D211N|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	379							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTCATCTTTGCAGTCT	0.532000													25	13					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846211	58846211	+	Missense_Mutation	SNP	G	G	C	rs143306274	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:58846211G>C	ENST00000329665.4	+	2	190	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	15					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCCGTGGGAAGAGGACAGCTT	0.617000													14	29					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89977645	89977645	+	Nonstop_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:89977645G>C	ENST00000263346.8	+	18	2086	c.2030G>C	c.(2029-2031)tGa>tCa	p.*677S	TCF25_ENST00000263347.7_3'UTR|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	0					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAGTGGGACTGAGCGTCCGCA	0.607000													18	45					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67209950	67209950	+	Silent	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67209950C>A	ENST00000393893.1	-	3	253	c.150G>T	c.(148-150)gtG>gtT	p.V50V	CORO1B_ENST00000453768.2_Silent_p.V50V|CORO1B_ENST00000545016.1_Silent_p.V50V|CORO1B_ENST00000341356.5_Silent_p.V50V	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	50					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTCCACAATCACCGCCAGGA	0.627000													17	36					9.16793e-09	9.43087e-09	1	1	0
SLC43A2	124935	broad.mit.edu	37	17	1478937	1478937	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:1478937G>C	ENST00000571650.1	-	15	1989	c.1683C>G	c.(1681-1683)ctC>ctG	p.L561L	SLC43A2_ENST00000412517.3_Silent_p.L420L|SLC43A2_ENST00000301335.4_Silent_p.L557L|SLC43A2_ENST00000382147.4_Silent_p.L561L			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	557					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CGTTGATTTTGAGGAAGAGTT	0.622000													16	22					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100052672	100052672	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:100052672C>T	ENST00000508393.1	-	7	1048	c.883G>A	c.(883-885)Ggt>Agt	p.G295S	ADH4_ENST00000423445.1_Missense_Mutation_p.G295S|ADH4_ENST00000505590.1_Missense_Mutation_p.G295S|ADH4_ENST00000265512.7_Missense_Mutation_p.G276S|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	276					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCAGATCCACCTGCACAGTCA	0.388000													12	40					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120636497	120636497	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:120636497C>T	ENST00000551150.1	-	5	826	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.E171K|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.E171K			P05388	RLA0_HUMAN	ribosomal protein, large, P0	171					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCGTGGCTTCGCTGGCTCCC	0.522000													18	46					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17978481	17978481	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:17978481G>A	ENST00000262608.8	+	3	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.E127K|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.E107K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	149					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCATTGGGTGAAGACAATTC	0.488000													16	42					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9117565	9117565	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:9117565G>C	ENST00000377424.4	-	3	414	c.235C>G	c.(235-237)Cca>Gca	p.P79A	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.P79A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	79					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAAATGGAAACATGGAC	0.453000													6	38					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189611995	189611995	+	Splice_Site	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:189611995G>C	ENST00000264731.3	+	14	1836	c.1746_splice	c.e14-1	p.D583_splice	TP63_ENST00000392461.3_Splice_Site_p.R409_splice|TP63_ENST00000440651.2_Splice_Site_p.D579_splice|TP63_ENST00000354600.5_Splice_Site_p.D489_splice|TP63_ENST00000392463.2_Splice_Site_p.R457_splice|TP63_ENST00000392460.3_Splice_Site_p.R551_splice|TP63_ENST00000320472.5_Splice_Site_p.R503_splice|TP63_ENST00000449992.1_Splice_Site_p.D404_splice|TP63_ENST00000456148.1_Splice_Site_p.D485_splice|TP63_ENST00000382063.4_Splice_Site_p.D498_splice	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	583	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTGCACAGGATCTGGCAAG	0.493000										HNSCC(45;0.13)			18	64					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67671611	67671611	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67671611G>C	ENST00000264010.4	+	12	2464	c.2020G>C	c.(2020-2022)Gaa>Caa	p.E674Q	CTCF_ENST00000401394.1_Missense_Mutation_p.E346Q	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	674					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CATTCAGGTTGAAGACCAGAA	0.468000													17	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072852	9072852	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9072852G>T	ENST00000397910.4	-	3	14797	c.14594C>A	c.(14593-14595)tCc>tAc	p.S4865Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4867	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCATGGTGGAGGTGGTAAC	0.453000													36	177					9.93527e-08	1.01619e-07	1	1	0
KCNJ4	3761	broad.mit.edu	37	22	38823412	38823412	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:38823412G>A	ENST00000303592.3	-	2	984	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	242					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCCCACGTTGAGGTCCCGCT	0.622000													17	45					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68470931	68470931	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:68470931G>C	ENST00000256442.5	+	6	1186	c.933G>C	c.(931-933)aaG>aaC	p.K311N		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GAGCATCTAAGATTGGAGAGG	0.453000													34	85					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9535686	9535686	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:9535686G>C	ENST00000019317.4	+	10	1942	c.1719G>C	c.(1717-1719)ttG>ttC	p.L573F	RALBP1_ENST00000383432.3_Missense_Mutation_p.L573F			Q15311	RBP1_HUMAN	ralA binding protein 1	573					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						ACAATCATTTGAATCAAGCAA	0.552000													6	16					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33272155	33272155	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:33272155C>G	ENST00000373477.4	-	4	1346	c.438G>C	c.(436-438)aaG>aaC	p.K146N		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	146					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTCCAGCCTTCTTGGAATCGT	0.547000													32	77					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5595458	5595458	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:5595458G>A	ENST00000252542.4	-	14	2097	c.1833C>T	c.(1831-1833)atC>atT	p.I611I		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	611	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CAAACGACAAGATGTCTCTCT	0.478000													17	17					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													5	19					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142467159	142467159	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:142467159C>T	ENST00000273482.6	+	3	778	c.387C>T	c.(385-387)gtC>gtT	p.V129V	TRPC1_ENST00000476941.1_Silent_p.V163V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	163					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGCACCTGTCATTTTAGCTG	0.353000													21	128					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67451196	67451196	+	Missense_Mutation	SNP	C	C	T	rs12492080		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:67451196C>T	ENST00000307227.5	-	10	1169	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	SUCLG2_ENST00000493112.1_Missense_Mutation_p.R381Q	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	381			R -> W (in dbSNP:rs7623258).		succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	p.R333L(1)|p.R381L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCTAGCTCCCGGCAGGCTTT	0.502000													20	58					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3144492	3144492	+	Splice_Site	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:3144492G>C	ENST00000355072.5	+	23	3090		c.e23-1			NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTGTTATTAGAATATATAGA	0.259000													20	28					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109685464	109685464	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109685464G>A	ENST00000338432.7	+	40	5744	c.5625G>A	c.(5623-5625)ctG>ctA	p.L1875L	ACACB_ENST00000377854.5_Silent_p.L1805L|ACACB_ENST00000377848.3_Silent_p.L1875L|ACACB_ENST00000543201.1_Silent_p.L541L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1875	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAGCTCCCTGAACTCCGTCC	0.433000													41	78					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89997547	89997547	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:89997547C>G	ENST00000428670.3	-	17	3246	c.2790G>C	c.(2788-2790)aaG>aaC	p.K930N	ATP2B1_ENST00000359142.3_Missense_Mutation_p.K930N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K930N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K673N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K930N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	930					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCAAAATATTCTTCATCATTG	0.403000													22	48					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194991385	194991385	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:194991385C>T	ENST00000310380.6	-	1	511	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	135						integral to membrane	transferase activity, transferring glycosyl groups										TTAAGCACCTCGTGCGCCTCG	0.677000													7	38					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27824475	27824475	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:27824475G>A	ENST00000318304.8	+	14	1592	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E284K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E420K|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E406K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	437					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTCATTTGAAGAAAAGTATGT	0.333000													7	20					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977636	12977636	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:12977636C>T	ENST00000273221.4	-	3	1138	c.922G>A	c.(922-924)Gat>Aat	p.D308N		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	308					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTCCTCATCGATGTACAGG	0.697000													38	81					0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123813550	123813550	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:123813550G>A	ENST00000264498.3	+	3	934	c.866G>A	c.(865-867)tGa>tAa	p.*289*		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	0					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	GCTAAGAGCTGATTTTAATGG	0.353000													39	62					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99456477	99456477	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:99456477G>C	ENST00000268035.6	+	8	2405	c.1794G>C	c.(1792-1794)aaG>aaC	p.K598N	IGF1R_ENST00000558762.1_Missense_Mutation_p.K598N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	598	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGGGCCAAGAGTGAGATCT	0.537000													10	91					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121868213	121868213	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:121868213G>C	ENST00000377069.4	-	22	4088	c.3682C>G	c.(3682-3684)Cat>Gat	p.H1228D	KDM2B_ENST00000536437.1_Silent_p.V556V|KDM2B_ENST00000377071.4_Missense_Mutation_p.H1297D|RNF34_ENST00000392464.2_Missense_Mutation_p.M480I|KDM2B_ENST00000542973.1_Missense_Mutation_p.H665D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1297					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGGTCAATATGACAGATGTTT	0.468000													55	135					0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5100331	5100331	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:5100331C>T	ENST00000379160.3	-	2	356	c.114G>A	c.(112-114)caG>caA	p.Q38Q	PCNA_ENST00000379143.5_Silent_p.Q38Q	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	38	Interaction with NUDT15.				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						AGTCCATGCTCTGCAGGTTTA	0.607000								DNA polymerases (catalytic subunits)					3	14					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51077027	51077027	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:51077027G>A	ENST00000301180.5	+	10	1347	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	438						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCTCTTACCAGAAAGGTAACA	0.433000													30	60					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424826	1424826	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:1424826G>A	ENST00000446702.2	+	18	2994	c.2367G>A	c.(2365-2367)ctG>ctA	p.L789L	CNTN6_ENST00000539053.1_Silent_p.L717L|CNTN6_ENST00000350110.2_Silent_p.L789L			Q9UQ52	CNTN6_HUMAN	contactin 6	789	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATCCCTGAGTACTGTGA	0.418000													28	45					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71193302	71193302	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:71193302C>T	ENST00000260382.5	+	4	495	c.235C>T	c.(235-237)Cct>Tct	p.P79S	LRRC49_ENST00000443425.2_Missense_Mutation_p.P35S|LRRC49_ENST00000560369.1_Missense_Mutation_p.P84S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.P69S|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	79						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATCATTTCCTATTCTTCA	0.308000													13	38					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	88					0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1293375	1293375	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1293375G>C	ENST00000360779.3	-	6	589	c.416C>G	c.(415-417)aCc>aGc	p.T139S	SDCBP2_ENST00000381812.1_Missense_Mutation_p.T139S|SDCBP2_ENST00000381808.3_Missense_Mutation_p.T54S|SDCBP2_ENST00000339987.3_Missense_Mutation_p.T139S	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	139	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GGATGCAGGGGTGTTGGCCTG	0.642000													11	24					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91652995	91652995	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:91652995C>T	ENST00000375835.4	-	11	1875	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	SHC3_ENST00000375830.1_Silent_p.K71K|SHC3_ENST00000375831.1_Silent_p.K71K	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	523	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGGTGGTGCTCTTCCTGACCA	0.607000													60	144					0	0	1	0	0
GSTT2B	653689	broad.mit.edu	37	22	24300609	24300609	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:24300609C>G	ENST00000290765.4	-	4	442	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	GSTT2B_ENST00000404172.3_Missense_Mutation_p.E130Q	NM_001080843.2	NP_001074312.1			glutathione S-transferase theta 2B (gene/pseudogene)																		TCCACCTTCTCCTCGGGCACC	0.642000													7	17					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98991144	98991144	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:98991144G>A	ENST00000254898.5	+	6	1220	c.989G>A	c.(988-990)gGa>gAa	p.G330E	MATN2_ENST00000521689.1_Missense_Mutation_p.G330E|MATN2_ENST00000520016.1_Missense_Mutation_p.G330E|MATN2_ENST00000522025.2_Missense_Mutation_p.G46E|MATN2_ENST00000524308.1_Missense_Mutation_p.G330E	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	330	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GAAAACCACGGATGTGAACAT	0.428000													11	29					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14003628	14003628	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14003628C>T	ENST00000454313.1	-	5	422	c.364G>A	c.(364-366)Gag>Aag	p.E122K	C19orf57_ENST00000591586.1_Missense_Mutation_p.E122K|C19orf57_ENST00000586783.1_Missense_Mutation_p.E122K|C19orf57_ENST00000346736.2_Missense_Mutation_p.E122K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	122					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCACGGTCCTCATCCTTCATC	0.542000													15	45					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67338376	67338376	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67338376C>G	ENST00000304372.5	-	3	454	c.399G>C	c.(397-399)tgG>tgC	p.W133C	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	133						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TAATACACTTCCATGTACGCC	0.488000													34	93					0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145762294	145762294	+	Missense_Mutation	SNP	G	G	C	rs2306523		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145762294G>C	ENST00000344770.2	+	8	1544	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	PDZK1_ENST00000417171.1_Missense_Mutation_p.E491Q|PDZK1_ENST00000451928.2_Missense_Mutation_p.E380Q|PDZK1_ENST00000465595.1_3'UTR	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	491					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AATAGTGGTGGAGTCAAACCA	0.448000													12	45					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275626	35275626	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:35275626C>T	ENST00000356321.4	-	3	354	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AAATTGTTTTCAGCCATCATA	0.299000													4	17					0	0	1	0	0
C4orf6	10141	broad.mit.edu	37	4	5528039	5528039	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:5528039C>G	ENST00000195455.2	+	2	438	c.263C>G	c.(262-264)tCa>tGa	p.S88*	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	88					nervous system development					large_intestine(1)|prostate(1)	2						GGTGCTCACTCAACTGCAGTG	0.433000													9	39					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14797546	14797546	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:14797546G>A	ENST00000380881.4	-	22	4607	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	FREM1_ENST00000380880.3_Silent_p.T1263T|FREM1_ENST00000422223.2_Silent_p.T1263T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1263					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTACTGAAATGGTTTTAAGTA	0.378000													18	72					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11318648	11318648	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11318648C>A	ENST00000361445.4	-	3	241	c.165G>T	c.(163-165)atG>atT	p.M55I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	55					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTCTTGACTCATCTGCAAAA	0.428000													12	27					6.40141e-05	6.4797e-05	1	1	0
INTS2	57508	broad.mit.edu	37	17	59989349	59989349	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:59989349G>C	ENST00000444766.3	-	6	831	c.756C>G	c.(754-756)ttC>ttG	p.F252L	INTS2_ENST00000251334.6_Missense_Mutation_p.F244L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	252					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTTTACACAAGAAGCGTAAGG	0.433000													61	98					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5830225	5830225	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:5830225G>C	ENST00000324989.7	-	12	1882	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.I484M|CRMP1_ENST00000512574.1_Missense_Mutation_p.I482M	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	484					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTATTCCTGATTTTGACGC	0.572000													10	24					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316127	30316127	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:30316127C>G	ENST00000375377.1	-	3	3051	c.2950G>C	c.(2950-2952)Gac>Cac	p.D984H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	984										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGTTTTGCGTCACTTGATCTT	0.527000													46	98					0	0	1	0	0
TXLNA	200081	broad.mit.edu	37	1	32660619	32660619	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32660619G>C	ENST00000373609.1	+	10	1745	c.1464G>C	c.(1462-1464)ctG>ctC	p.L488L	TXLNA_ENST00000373610.3_Silent_p.L488L			P40222	TXLNA_HUMAN	taxilin alpha	488					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TACAGGACCTGAGTGCTGGTG	0.627000													24	38					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575426	71575426	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:71575426C>T	ENST00000304743.2	+	34	6853	c.6407C>T	c.(6406-6408)tCa>tTa	p.S2136L	PCNX_ENST00000439984.3_Missense_Mutation_p.S2025L|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S2064L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2136	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGCCGGCATTCATCCCTCCGG	0.572000													29	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416576	179416576	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179416576C>T	ENST00000589042.1	-	335	91275	c.91051G>A	c.(91051-91053)Gat>Aat	p.D30351N	TTN_ENST00000460472.2_Missense_Mutation_p.D21286N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27783N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21411N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28710N|TTN_ENST00000342175.6_Missense_Mutation_p.D21478N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28710	Fibronectin type-III 121.						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)			GAACCACCATCATAAACTGGA	0.413000													47	110					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931711	184931711	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:184931711G>C	ENST00000308497.4	+	3	3155	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q	STOX2_ENST00000438269.1_Missense_Mutation_p.E574Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	574					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGCCTTTTGGAGCCAGGAAA	0.493000													12	18					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204955121	204955121	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:204955121C>T	ENST00000367172.4	+	23	2998	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R	NFASC_ENST00000338515.6_Silent_p.R890R|NFASC_ENST00000404076.1_Silent_p.R869R|NFASC_ENST00000404907.1_Silent_p.R886R|NFASC_ENST00000367170.4_Silent_p.R890R|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000513543.1_Silent_p.R886R|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367171.4_Silent_p.R875R|NFASC_ENST00000539706.1_Silent_p.R886R|NFASC_ENST00000360049.4_Silent_p.R886R|NFASC_ENST00000338586.6_Silent_p.R890R			O94856	NFASC_HUMAN	neurofascin	890	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGGTGACCGCCTCCGTGGCG	0.592000													8	32					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795873	42795873	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:42795873G>A	ENST00000572681.2	+	12	5657	c.5589G>A	c.(5587-5589)caG>caA	p.Q1863Q	CIC_ENST00000575354.2_Silent_p.Q954Q|CIC_ENST00000160740.3_Silent_p.Q954Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACCTGTGCAGAATGGTGCCC	0.607000			"""Mis, F, S"""		oligodendroglioma								27	82					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598682	52598682	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:52598682G>A	ENST00000521508.1	+	3	821	c.816G>A	c.(814-816)ggG>ggA	p.G272G	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GGAAAGTTGGGAATTGCACTA	0.388000													24	46					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2313199	2313199	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:2313199G>C	ENST00000565678.1	-	4	862	c.317C>G	c.(316-318)tCa>tGa	p.S106*	RNPS1_ENST00000320225.5_Nonsense_Mutation_p.S106*|RNPS1_ENST00000568631.1_Nonsense_Mutation_p.S106*|RNPS1_ENST00000301730.8_Nonsense_Mutation_p.S106*|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000397086.2_Nonsense_Mutation_p.S106*|RNPS1_ENST00000566458.1_Nonsense_Mutation_p.S83*|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000567147.1_Nonsense_Mutation_p.S83*			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	106	Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Necessary for interactions with UPF2 and UPF3B and UPF2-dependent NMD.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						ggagcttcctgagcggctgga	0.637000													14	16					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923756	60923756	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:60923756C>T	ENST00000321731.3	-	15	1396	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	413										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCAGCTCTCTCTTCTACTTCA	0.353000													45	75					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682042	3682042	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:3682042G>A	ENST00000344754.4	-	6	1474	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S492L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	492	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGGTGGCTGAGCACTTGTA	0.587000													21	31					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50882308	50882308	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50882308G>C	ENST00000359139.3	+	22	2909	c.2515G>C	c.(2515-2517)Gac>Cac	p.D839H	PPP6R2_ENST00000395741.3_Missense_Mutation_p.D839H|PPP6R2_ENST00000216061.5_Missense_Mutation_p.D872H|PPP6R2_ENST00000395744.3_Missense_Mutation_p.D838H	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	872						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGGGTGTGCTGACAGCCGGCT	0.657000													6	9					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307102	41307102	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41307102G>A	ENST00000593726.1	+	1	1653	c.625G>A	c.(625-627)Gag>Aag	p.E209K	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.E209K|EGLN2_ENST00000406058.2_Missense_Mutation_p.E209K			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	209					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CGTGCTGGCCGAGGTGGAGGC	0.687000													61	128					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220629	1220629	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:1220629C>T	ENST00000326873.7	+	5	1820	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	216	Protein kinase.		S -> F (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.S216F(3)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCAGGGCTCCCCGGCTTTC	0.711000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	11					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45801848	45801848	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:45801848G>T	ENST00000263736.4	-	8	1149	c.1087C>A	c.(1087-1089)Cag>Aag	p.Q363K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	363					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCAATATCCTGAAGCGTTGAA	0.323000													10	88					1.08611e-07	1.10983e-07	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98545961	98545961	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:98545961G>A	ENST00000359863.4	+	33	4854	c.4645G>A	c.(4645-4647)Gag>Aag	p.E1549K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1531K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1530K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1549					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GATGCTGATCGAGGTAAGGGC	0.502000													5	71					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599970	28599970	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:28599970G>A	ENST00000253063.3	+	6	1173	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	284					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGATGGAGAGCCGCTTTG	0.632000													10	13					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281697	49281697	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:49281697C>T	ENST00000282018.3	+	1	747	c.744C>T	c.(742-744)acC>acT	p.T248T		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	248					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CACTGACCACCATCATCATCA	0.488000													31	53					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73795939	73795939	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:73795939C>T	ENST00000334126.7	-	22	4213	c.3987G>A	c.(3985-3987)ctG>ctA	p.L1329L	C2CD3_ENST00000313663.7_Silent_p.L1329L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1329						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCTCTTGATCAGCAGCTCTT	0.388000													13	11					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780814	24780814	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:24780814G>A	ENST00000528054.1	+	1	2654	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	LTB4R2_ENST00000543919.1_Missense_Mutation_p.R315Q|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R315Q			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	346					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGAGGCCCGAGGGGGCGGC	0.687000													36	53					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126681792	126681792	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:126681792C>T	ENST00000309035.6	-	7	2768	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	CTBP2_ENST00000411419.2_Missense_Mutation_p.E340K|CTBP2_ENST00000494626.2_Missense_Mutation_p.E340K|CTBP2_ENST00000531469.1_Missense_Mutation_p.E340K|CTBP2_ENST00000334808.6_Missense_Mutation_p.E408K|CTBP2_ENST00000337195.5_Missense_Mutation_p.E340K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	340					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGGCGGATCTCGGTGGCAGCT	0.632000													6	18					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128933836	128933836	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:128933836C>G	ENST00000310343.9	-	8	803	c.804G>C	c.(802-804)aaG>aaC	p.K268N	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.K194N	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	268	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGTGTACCTCTTGATAACAT	0.428000													44	46					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933151	150933151	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:150933151G>C	ENST00000271640.5	+	16	2803	c.2613G>C	c.(2611-2613)gaG>gaC	p.E871D	SETDB1_ENST00000368969.4_Missense_Mutation_p.E871D|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	871	SET.				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	p.E871D(1)		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)			AAGGATATGAGAGTGATGCCC	0.488000													61	68					0	0	1	0	0
EMC1	23065	broad.mit.edu	37	1	19559127	19559127	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:19559127C>T	ENST00000477853.1	-	15	1815	c.1773G>A	c.(1771-1773)gtG>gtA	p.V591V	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.V590V|EMC1_ENST00000375208.3_Silent_p.V569V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		CCTTGTCCTTCACCAGCAGGG	0.483000													51	96					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3008372	3008372	+	Missense_Mutation	SNP	C	C	G	rs138028158	byFrequency	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:3008372C>G	ENST00000216877.6	+	19	2178	c.1778C>G	c.(1777-1779)tCc>tGc	p.S593C	PTPRA_ENST00000318266.5_Missense_Mutation_p.S593C|PTPRA_ENST00000380393.3_Missense_Mutation_p.S602C|PTPRA_ENST00000356147.3_Missense_Mutation_p.S593C|PTPRA_ENST00000425918.2_Missense_Mutation_p.S613C|PTPRA_ENST00000399903.2_Missense_Mutation_p.S602C|PTPRA_ENST00000358719.4_Missense_Mutation_p.S458C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	602	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGGACTCCTATATCGCC	0.517000													11	54					0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	94994347	94994347	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:94994347C>T	ENST00000274432.8	-	5	886	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	249					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TCATTCATTTCAGCTGATTGG	0.363000													9	25					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646835	57646835	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:57646835C>G	ENST00000269834.1	-	5	1255	c.870G>C	c.(868-870)caG>caC	p.Q290H		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGTTGAGTTCTGCCTGAAGG	0.373000													42	72					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60658681	60658681	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:60658681G>A	ENST00000227524.4	-	16	1677	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	491					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GCCTGTTGAAGCGATGAACTT	0.547000													13	21					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200978	101200978	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:101200978C>T	ENST00000341267.4	+	5	1139	c.897C>T	c.(895-897)ctC>ctT	p.L299L	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	299					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.L299L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCCCTCTCCTCACCGAGGGCC	0.622000													25	59					0	0	1	0	0
RPLP2	6181	broad.mit.edu	37	11	812802	812802	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:812802C>G	ENST00000321153.4	+	5	708	c.314C>G	c.(313-315)tCa>tGa	p.S105*	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Nonsense_Mutation_p.S105*	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGAAGAGTCAGATGATGAC	0.478000													20	40					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703727	55703727	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:55703727C>G	ENST00000301532.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	50			L -> S (in dbSNP:rs4367963).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L50L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATCCTGATCAACAGCATCA	0.403000													3	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414167	179414167	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179414167C>T	ENST00000589042.1	-	339	92410	c.92186G>A	c.(92185-92187)aGc>aAc	p.S30729N	TTN_ENST00000460472.2_Missense_Mutation_p.S21664N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28161N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21789N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29088N|TTN_ENST00000342175.6_Missense_Mutation_p.S21856N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29088	Ig-like 138.						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)			TGTTATGTTGCTAGGTTCTGG	0.408000													6	47					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471229	44471229	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44471229G>C	ENST00000251269.5	+	6	1903	c.1575G>C	c.(1573-1575)caG>caC	p.Q525H	ZNF221_ENST00000592350.1_Missense_Mutation_p.Q525H|ZNF221_ENST00000587682.1_Missense_Mutation_p.Q525H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATTCCCATCAGACATGCCATA	0.433000													28	80					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104639754	104639754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:104639754C>T	ENST00000315264.7	+	8	1732	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	KIF26A_ENST00000423312.2_Nonsense_Mutation_p.R591*			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	591	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCAGCCGAGCGGGCTG	0.672000													4	8					0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	21001118	21001118	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:21001118G>C	ENST00000237822.3	-	2	185	c.106C>G	c.(106-108)Cat>Gat	p.H36D	C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.H36D|C2orf43_ENST00000440866.2_Missense_Mutation_p.H36D|C2orf43_ENST00000419825.2_Missense_Mutation_p.H36D|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.H36D	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	36										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGATCATGAAAGAGGTCT	0.428000													23	39					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18304874	18304874	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:18304874C>T	ENST00000441493.2	-	24	3722	c.3370G>A	c.(3370-3372)Gag>Aag	p.E1124K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1124	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCTTCCCCCTCAGCTGGGCAC	0.612000													13	99					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21721216	21721216	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:21721216G>A	ENST00000328843.6	+	31	5427	c.5396G>A	c.(5395-5397)gGa>gAa	p.G1799E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1794E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1799	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCCACCTGGAGACAGACAG	0.383000									Kartagener syndrome				23	32					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239618	160239618	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:160239618C>G	ENST00000275275.5	+	16	1327	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q397E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	386						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATCCTTTCCTCAGTACCTTGA	0.577000													31	60					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72768370	72768370	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:72768370C>G	ENST00000357814.3	-	5	454	c.381G>C	c.(379-381)gcG>gcC	p.A127A	NAT9_ENST00000582524.1_Silent_p.A127A|NAT9_ENST00000580632.1_Intron|NAT9_ENST00000578822.1_Silent_p.A132A|NAT9_ENST00000583757.1_Silent_p.A126A|NAT9_ENST00000581136.1_Silent_p.A127A|NAT9_ENST00000583476.1_Silent_p.A127A|NAT9_ENST00000580301.1_Silent_p.A126A|NAT9_ENST00000582870.1_Silent_p.A131A	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	127	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGACAGCATCGCGAGAACGG	0.617000													14	28					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535844	166535844	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:166535844C>T	ENST00000314499.7	+	7	1715	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.P479S|CSRNP3_ENST00000342316.4_Missense_Mutation_p.P447S	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	447					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TCCAGGAACTCCAAATCAGAT	0.443000													23	43					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158557395	158557395	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:158557395G>A	ENST00000251527.5	-	9	1283	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	434	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ACTTTGGACTGAGGTTCTCCT	0.512000													41	37					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56627106	56627106	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:56627106G>C	ENST00000394672.3	+	8	1115	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	CCDC66_ENST00000436465.2_Missense_Mutation_p.E349Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.E315Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	349										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGAAAAATAGAGGAAAAAAT	0.303000													30	29					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569207	5569207	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:5569207G>A	ENST00000331789.5	-	2	273	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	28					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGACGGCCCGGGGGGCATCG	0.706000													13	46					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149262512	149262512	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:149262512G>C	ENST00000367463.4	+	3	492	c.389G>C	c.(388-390)gGa>gCa	p.G130A		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	130					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GAGAAGCACGGATTTAATTTG	0.433000													29	85					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431594	117431594	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:117431594G>A	ENST00000160373.3	-	4	1747	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	552	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGTTTGGGAGAGCCCTGGCT	0.517000													75	78					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300497	21300497	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:21300497G>A	ENST00000596143.1	+	5	1352	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTACAAATGTGAAGAATGTGG	0.373000													15	12					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21805078	21805078	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:21805078C>G	ENST00000319481.3	-	17	1735	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R128T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	510					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCTGTGTTTTCTACTGCCCAA	0.507000													25	71					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150236243	150236243	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:150236243C>T	ENST00000369111.4	+	10	1883	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	305						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCTGCCTTCTCCTGGCTGT	0.428000													75	167					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													6	217					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61762899	61762899	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:61762899C>T	ENST00000361357.3	+	9	1070	c.752C>T	c.(751-753)gCa>gTa	p.A251V	MAP3K3_ENST00000361733.3_Missense_Mutation_p.A220V|MAP3K3_ENST00000579585.1_Missense_Mutation_p.A251V|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A220V|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A251V	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	220					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGAGCAGTGCAGAAAATTCC	0.532000													16	50					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992852	21992852	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21992852C>T	ENST00000327430.3	-	2	1304	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R200Q|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	337							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCAAGGCCTCGGGCTGCCCC	0.607000													9	21					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797906	2797906	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:2797906G>A	ENST00000399655.1	+	46	6343	c.6078G>A	c.(6076-6078)ggG>ggA	p.G2026G	CACNA1C_ENST00000399634.1_Silent_p.G2097G|CACNA1C_ENST00000344100.3_Silent_p.G2067G|CACNA1C_ENST00000399591.1_Silent_p.G2034G|CACNA1C_ENST00000399606.1_Silent_p.G2046G|CACNA1C_ENST00000399597.1_Silent_p.G2026G|CACNA1C_ENST00000347598.4_Silent_p.G2074G|CACNA1C_ENST00000399617.1_Silent_p.G2061G|CACNA1C_ENST00000399644.1_Silent_p.G2026G|CACNA1C_ENST00000399601.1_Silent_p.G2026G|CACNA1C_ENST00000399629.1_Silent_p.G2043G|CACNA1C_ENST00000402845.3_Silent_p.G2045G|CACNA1C_ENST00000399595.1_Silent_p.G2034G|CACNA1C_ENST00000399638.1_Silent_p.G2054G|CACNA1C_ENST00000399637.1_Silent_p.G2045G|CACNA1C_ENST00000399649.1_Silent_p.G2032G|CACNA1C_ENST00000327702.7_Silent_p.G2061G|CACNA1C_ENST00000335762.5_Silent_p.G2051G|CACNA1C_ENST00000399603.1_Silent_p.G2026G|CACNA1C_ENST00000399641.1_Silent_p.G2026G|CACNA1C_ENST00000406454.3_Silent_p.G2097G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.G2045G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2109					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCCCAGGGAGGCAGTTCC	0.721000													7	12					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507944	14507944	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14507944C>T	ENST00000242786.5	+	6	614	c.534C>T	c.(532-534)ctC>ctT	p.L178L	CD97_ENST00000357355.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	178	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCCACTGCCTCAACAACGTGG	0.607000													95	96					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69170620	69170620	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:69170620C>T	ENST00000563094.1	+	3	215	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R61W|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R61W			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	61						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TCATGAGTCTCGGGCTACAGA	0.463000													58	160					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21377815	21377815	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:21377815C>T	ENST00000413302.2	+	8	946	c.798C>T	c.(796-798)atC>atT	p.I266I	P2RX6_ENST00000443995.3_Silent_p.I213I|P2RX6_ENST00000336296.2_Silent_p.I256I|P2RX6_ENST00000401443.1_Silent_p.I240I|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	266					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CTGTAGGCATCAGAGTTCACT	0.602000													7	7					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57015126	57015126	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:57015126C>G	ENST00000200676.3	+	12	1333	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	CETP_ENST00000566128.1_Silent_p.L336L|CETP_ENST00000379780.2_Silent_p.L341L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	401					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCTTAAGCCTCTTGGATTTCC	0.557000													5	97					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116620558	116620558	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:116620558C>T	ENST00000369248.4	+	15	2333	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	FAM160B1_ENST00000369250.3_Silent_p.L666L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	666										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GACTTTCTCTCTTCCCTCATC	0.398000													51	120					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3340070	3340070	+	Missense_Mutation	SNP	G	G	A	rs142452283		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:3340070G>A	ENST00000219069.5	+	6	2440	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	ZNF263_ENST00000538765.1_Missense_Mutation_p.E170K	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	522					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAAGTGTCCCGAGTGTGGGAA	0.512000													14	29					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103060496	103060496	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:103060496C>T	ENST00000375735.2	+	45	7532	c.7388C>T	c.(7387-7389)tCa>tTa	p.S2463L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S2463L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2463	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGTTCTTCATCAAAAATT	0.318000													31	35					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569567	7569567	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:7569567C>T	ENST00000379802.3	+	12	1909	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	DSP_ENST00000418664.2_Missense_Mutation_p.S523F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	523	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGACCTCTCTTGCAAGTAA	0.572000													32	61					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280663	105280663	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:105280663C>G	ENST00000327674.4	-	1	722	c.387G>C	c.(385-387)caG>caC	p.Q129H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q129H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	129					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATTTCCTATCTGCAATTCCA	0.448000													59	28					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834094	125834094	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:125834094C>T	ENST00000299308.3	+	2	157	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	50						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGAGGAGTCCTTTTTCCTT	0.537000													46	87					0	0	1	0	0
FAM127B	26071	broad.mit.edu	37	X	134185958	134185958	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:134185958C>G	ENST00000370775.2	-	1	247	c.181G>C	c.(181-183)Gac>Cac	p.D61H	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	61										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					TTCAGGGCGTCGTTGGAGAAC	0.587000													39	14					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266178	67266178	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67266178G>A	ENST00000356404.3	-	10	1598	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	PITPNM1_ENST00000534749.1_Missense_Mutation_p.S458F|PITPNM1_ENST00000436757.2_Missense_Mutation_p.S458F	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	458					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTCGAAGGCGGAGCTCAGCGT	0.667000													47	53					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38763895	38763895	+	Missense_Mutation	SNP	G	G	A	rs146965005		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:38763895G>A	ENST00000449082.2	-	19	3360	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1121					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGACAGTGGCGAATGCATCCT	0.552000													46	92					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160710889	160710889	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:160710889G>C	ENST00000263636.4	-	18	2604	c.2577C>G	c.(2575-2577)atC>atG	p.I859M	LY75_ENST00000554112.1_Missense_Mutation_p.I859M|LY75_ENST00000553424.1_Missense_Mutation_p.I859M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.I859M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.I859M	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTTGTTTTTGATGGCTTTTA	0.279000													15	39					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													4	162					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333766	28333766	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:28333766C>T	ENST00000377255.3	+	7	1618	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.L293F|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L441F	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	441					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AAGTTCACATCTCCTGAGACA	0.498000													18	24					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152651	50152651	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:50152651G>C	ENST00000284509.6	-	28	3460	c.3319C>G	c.(3319-3321)Caa>Gaa	p.Q1107E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q1107E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1107					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCCTTCTTTTGAGCCTTCTGC	0.522000													26	70					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369149	22369149	+	Missense_Mutation	SNP	A	A	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:22369149A>G	ENST00000332663.2	+	1	672	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTGCCAACACCTTCCCAGA	0.478000													44	106					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													4	123					2.56e-06	2.60602e-06	1	1	0
SUGP2	10147	broad.mit.edu	37	19	19115196	19115196	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:19115196C>T	ENST00000601879.1	-	7	3007	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	SUGP2_ENST00000456085.2_Missense_Mutation_p.E673K|SUGP2_ENST00000452918.2_Missense_Mutation_p.E904K|SUGP2_ENST00000337018.6_Missense_Mutation_p.E904K|SUGP2_ENST00000600377.1_Missense_Mutation_p.E918K			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	904	Asp/Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGGGcctcctctcccccatcc	0.697000													13	27					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91738970	91738970	+	Nonstop_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:91738970C>G	ENST00000389857.6	-	30	6172	c.6086G>C	c.(6085-6087)tGa>tCa	p.*2029S	CCDC88C_ENST00000331194.7_Nonstop_Mutation_p.*553S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	0					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACGAGACAGTCACACACAGCC	0.612000													10	137					0	0	1	0	0
IER5	51278	broad.mit.edu	37	1	181058848	181058848	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:181058848C>T	ENST00000367577.4	+	1	1211	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	270										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CTAACCTCATCAGCATCTTCG	0.652000													20	24					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720853	135720853	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:135720853C>T	ENST00000264977.3	+	2	1130	c.513C>T	c.(511-513)gcC>gcT	p.A171A	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	171			A -> S (in dbSNP:rs6779903).		protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGGGAACGCCCCATCCTTTG	0.423000													46	56					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123739145	123739145	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:123739145G>T	ENST00000223642.1	-	29	3726	c.3697C>A	c.(3697-3699)Cag>Aag	p.Q1233K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1233					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTTTATGCTGAAGATTGTCT	0.338000													4	63					0.00024832	0.000251121	1	1	0
TMEM51	55092	broad.mit.edu	37	1	15546088	15546088	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:15546088G>A	ENST00000428417.1	+	3	1057	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	TMEM51_ENST00000376008.2_Missense_Mutation_p.R204Q|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Missense_Mutation_p.R204Q|TMEM51_ENST00000376014.3_Missense_Mutation_p.R204Q	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	204						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTGAAAGTTCGAAGGATTAAA	0.537000													47	90					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56287638	56287638	+	Splice_Site	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:56287638C>G	ENST00000373965.2	-	3	486		c.e3-1		PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTTTGCAATCTAAAGAGAGA	0.328000										HNSCC(58;0.16)			10	35					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998594	100998594	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:100998594G>A	ENST00000325455.5	-	1	2661	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.S403F	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	403	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CACAAGGTAGGAACGCGGGGA	0.687000													10	5					0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173473844	173473844	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:173473844C>T	ENST00000303177.3	+	2	348	c.86C>T	c.(85-87)aCt>aTt	p.T29I	NSG2_ENST00000521585.1_Missense_Mutation_p.T29I	NM_015980.4	NP_057064.1																					CCTCTCATCACTCCCTTGGAG	0.532000													65	137					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64395323	64395323	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:64395323C>A	ENST00000262043.3	+	4	2040	c.1700C>A	c.(1699-1701)tCt>tAt	p.S567Y	PHF3_ENST00000393387.1_Missense_Mutation_p.S567Y|PHF3_ENST00000509330.1_Missense_Mutation_p.S567Y			Q92576	PHF3_HUMAN	PHD finger protein 3	567					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGGGTTAAATCTGTGAAAAAC	0.343000													16	32					2.32078e-09	2.39192e-09	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48596194	48596194	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:48596194G>A	ENST00000262384.3	-	2	596	c.360C>T	c.(358-360)atC>atT	p.I120I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	120					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CACTTCCTCTGATGCCAAGAA	0.443000													13	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615718	179615718	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:179615718C>T	ENST00000360870.5	-	46	11631	c.11409G>A	c.(11407-11409)caG>caA	p.Q3803Q	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9640							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)			TTATTTCAGTCTGGAAAATTT	0.348000													30	72					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678892	38678892	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:38678892C>T	ENST00000267377.2	+	3	915	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	100					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CATCCTAAATCTGGCCATTGC	0.582000													76	156					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166958997	166958997	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:166958997G>C	ENST00000367872.4	+	2	400	c.156G>C	c.(154-156)gaG>gaC	p.E52D	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	52					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGAAAAGGAGAAATACGCAG	0.552000													10	41					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596632	97596632	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:97596632G>C	ENST00000182096.4	+	1	814	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATTCATATGTGATGCCAAATG	0.443000													13	30					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622442	202622442	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:202622442G>A	ENST00000264276.6	-	5	1526	c.1154C>T	c.(1153-1155)cCt>cTt	p.P385L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	385					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCTTGTGGTAGGCGGGCTGTG	0.428000													13	42					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172735	90172735	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:90172735C>T	ENST00000394412.3	-	17	3464	c.3388G>A	c.(3388-3390)Gag>Aag	p.E1130K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1130					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTGCTGCTCCTCCAGCTGC	0.647000													39	89					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56303677	56303677	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:56303677C>G	ENST00000443188.1	-	9	3213	c.2503G>C	c.(2503-2505)Gag>Cag	p.E835Q	NLRP11_ENST00000589824.2_Missense_Mutation_p.E781Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.E781Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.E736Q|NLRP11_ENST00000589093.1_Missense_Mutation_p.E835Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	835							ATP binding	p.E835Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGAAGCTCCTCTAACTGACAG	0.488000													60	72					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801299	9801299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9801299G>A	ENST00000457674.2	-	5	1398	c.880C>T	c.(880-882)Caa>Taa	p.Q294*	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTACATGTTGAGTAAGGTGA	0.403000													29	102					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708196	106708196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:106708196C>G	ENST00000546625.1	+	3	377	c.218C>G	c.(217-219)tCa>tGa	p.S73*	TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.S73*|TCP11L2_ENST00000299045.3_Nonsense_Mutation_p.S73*			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	73										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGGAACTTATCAAACTTGACT	0.398000													20	53					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55897354	55897354	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:55897354G>A	ENST00000521992.1	-	7	948	c.803C>T	c.(802-804)cCc>cTc	p.P268L	CES5A_ENST00000520435.1_Missense_Mutation_p.P209L|CES5A_ENST00000518005.1_Missense_Mutation_p.P133L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.P239L|CES5A_ENST00000290567.9_Missense_Mutation_p.P239L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	239						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTGGCCATGGGAGACAGTAT	0.502000													25	38					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162420	29162420	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:29162420G>A	ENST00000321990.4	+	2	1699	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	441					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAGAGATGATAATTCTAA	0.323000													13	39					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50298025	50298025	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50298025G>A	ENST00000330817.5	-	8	1395	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	374					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGCATTGCGACGCCACCTG	0.642000													24	43					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38759406	38759406	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:38759406G>C	ENST00000359357.3	+	19	2460	c.2206G>C	c.(2206-2208)Gaa>Caa	p.E736Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.E736Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.E953Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTCTGCCTGAAAGTGGTGC	0.343000													15	23					0	0	1	0	0
PTN	5764	broad.mit.edu	37	7	136938251	136938251	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:136938251C>T	ENST00000348225.2	-	3	676	c.249G>A	c.(247-249)caG>caA	p.Q83Q	PTN_ENST00000393083.2_Silent_p.Q83Q	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	83					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTTACATCTCTGGGTCTTCA	0.522000													29	28					0	0	1	0	0
TRMT61A	115708	broad.mit.edu	37	14	103999011	103999011	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:103999011G>A	ENST00000389749.4	+	3	531	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	142						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						GCAGCGGGCAGAGAAGGCCCG	0.682000													17	39					0	0	1	0	0
RNFT1	51136	broad.mit.edu	37	17	58031444	58031444	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:58031444G>C	ENST00000305783.8	-	8	1190	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	379						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AATTCAGCTTGACATATTGAA	0.338000													10	27					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634137	27634137	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:27634137G>C	ENST00000305188.8	+	3	550	c.312G>C	c.(310-312)gaG>gaC	p.E104D	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	104					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGATAAAAGAGAGTAGATCTA	0.368000									SC Phocomelia syndrome				10	39					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77785339	77785339	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:77785339C>G	ENST00000407578.2	-	23	3645	c.3379G>C	c.(3379-3381)Ggt>Cgt	p.G1127R	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1089R|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1089R	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1089					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGACACACACCAAATCCTTGC	0.333000													13	27					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786306	2786306	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:2786306G>A	ENST00000399655.1	+	40	5140	c.4875G>A	c.(4873-4875)caG>caA	p.Q1625Q	CACNA1C_ENST00000399634.1_Silent_p.Q1625Q|CACNA1C_ENST00000344100.3_Silent_p.Q1666Q|CACNA1C_ENST00000399591.1_Silent_p.Q1633Q|CACNA1C_ENST00000399606.1_Silent_p.Q1645Q|CACNA1C_ENST00000399597.1_Silent_p.Q1625Q|CACNA1C_ENST00000347598.4_Silent_p.Q1673Q|CACNA1C_ENST00000399617.1_Silent_p.Q1625Q|CACNA1C_ENST00000399644.1_Silent_p.Q1625Q|CACNA1C_ENST00000399601.1_Silent_p.Q1625Q|CACNA1C_ENST00000399629.1_Silent_p.Q1642Q|CACNA1C_ENST00000402845.3_Silent_p.Q1644Q|CACNA1C_ENST00000399595.1_Silent_p.Q1633Q|CACNA1C_ENST00000399638.1_Silent_p.Q1653Q|CACNA1C_ENST00000399637.1_Silent_p.Q1644Q|CACNA1C_ENST00000399649.1_Silent_p.Q1631Q|CACNA1C_ENST00000327702.7_Silent_p.Q1625Q|CACNA1C_ENST00000335762.5_Silent_p.Q1650Q|CACNA1C_ENST00000399603.1_Silent_p.Q1625Q|CACNA1C_ENST00000399641.1_Silent_p.Q1625Q|CACNA1C_ENST00000406454.3_Silent_p.Q1625Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.Q1644Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1673					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCTGATCCAGGAGTACTTCC	0.597000													6	24					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91843283	91843283	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:91843283G>C	ENST00000394507.1	-	17	2524	c.1741C>G	c.(1741-1743)Cta>Gta	p.L581V	KRIT1_ENST00000394505.2_Missense_Mutation_p.L581V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L581V|KRIT1_ENST00000394503.2_Missense_Mutation_p.L533V|KRIT1_ENST00000340022.2_Missense_Mutation_p.L581V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	581	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGGATTTTAGATTTTCTTCA	0.338000													12	73					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209310	98209310	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:98209310C>G	ENST00000430669.2	-	23	4615	c.4030G>C	c.(4030-4032)Gag>Cag	p.E1344Q	PTCH1_ENST00000418258.1_Missense_Mutation_p.E1259Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E1410Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E1409Q|PTCH1_ENST00000437951.1_Missense_Mutation_p.E1344Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E1259Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E1259Q			Q13635	PTC1_HUMAN	patched 1	1410					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGGGGTCCTCAAACAGGCCG	0.672000													37	70					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115571361	115571361	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:115571361C>T	ENST00000490035.1	-	4	1117	c.618G>A	c.(616-618)gcG>gcA	p.A206A	LSAMP_ENST00000539563.1_Silent_p.A203A|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	206	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTTTGACATCCGCCGAGGAGA	0.532000													16	70					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103932719	103932719	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:103932719G>C	ENST00000429436.2	+	10	1447	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	MARK3_ENST00000553942.1_Missense_Mutation_p.E313Q|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.E234Q|MARK3_ENST00000416682.2_Missense_Mutation_p.E336Q|MARK3_ENST00000335102.5_Missense_Mutation_p.E336Q|MARK3_ENST00000216288.7_Missense_Mutation_p.E313Q|MARK3_ENST00000303622.9_Missense_Mutation_p.E313Q	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	313							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGGGCATGAAGAAGATGAACT	0.363000													6	18					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140330690	140330690	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:140330690G>A	ENST00000371506.2	-	7	1008	c.825C>T	c.(823-825)ctC>ctT	p.L275L	ENTPD8_ENST00000344119.2_Silent_p.L275L|ENTPD8_ENST00000472938.1_Silent_p.L275L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	275						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTAGCCGCTGAGGTAGCACG	0.706000													11	18					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167169	64167169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:64167169G>T	ENST00000395391.1	+	4	1862	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	ZNF107_ENST00000344930.3_Nonsense_Mutation_p.E163*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.E163*			Q9UII5	ZN107_HUMAN	zinc finger protein 107	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTACAAATGTGAAGAATGTGG	0.378000													21	46					1.96292e-10	2.02503e-10	1	1	0
IMPA2	3613	broad.mit.edu	37	18	12028068	12028068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:12028068G>T	ENST00000269159.3	+	6	759	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	173					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GGTTCTGACAGAAATTGGCCC	0.498000													19	59					2.94398e-08	3.01688e-08	1	1	0
USP15	9958	broad.mit.edu	37	12	62783731	62783731	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:62783731G>C	ENST00000280377.5	+	14	1865	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	USP15_ENST00000393654.3_Missense_Mutation_p.E578Q|USP15_ENST00000353364.3_Missense_Mutation_p.E574Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	603					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAACAATACTGAAGACAAACT	0.353000													10	37					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15470866	15470866	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:15470866G>A	ENST00000281513.5	-	36	4228	c.4203C>T	c.(4201-4203)agC>agT	p.S1401S	NBAS_ENST00000441750.1_Silent_p.S1281S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1401										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGCTGAATTGCTACCTGGAA	0.463000													8	37					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630533	187630533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:187630533G>C	ENST00000441802.2	-	2	658	c.449C>G	c.(448-450)tCa>tGa	p.S150*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	150	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAGGTGGGTGAGAATAACGG	0.463000										HNSCC(5;0.00058)			69	124					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664081	44664081	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:44664081C>G	ENST00000454036.1	+	3	331	c.255C>G	c.(253-255)ctC>ctG	p.L85L	SLC12A5_ENST00000539566.1_Silent_p.L62L|SLC12A5_ENST00000243964.3_Silent_p.L62L|SLC12A5_ENST00000372315.1_Silent_p.L62L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	85					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTCCTTGCTCAGTGGCCTGG	0.587000													4	177					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	50					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500450	220500450	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:220500450G>A	ENST00000358055.3	+	14	2540	c.2028G>A	c.(2026-2028)ctG>ctA	p.L676L	SLC4A3_ENST00000373760.2_Silent_p.L676L|SLC4A3_ENST00000273063.6_Silent_p.L703L|SLC4A3_ENST00000317151.3_Silent_p.L676L|SLC4A3_ENST00000373762.3_Silent_p.L703L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	676					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCTTGCTGCGGACGGGCT	0.642000													5	12					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983764	110983764	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:110983764C>T	ENST00000354300.3	-	3	811	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	175	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TGCTGCTGCTCATCTGATCGG	0.562000													39	63					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76373228	76373228	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:76373228G>A	ENST00000370014.3	+	9	1607	c.988G>A	c.(988-990)Gat>Aat	p.D330N	SENP6_ENST00000370010.2_Missense_Mutation_p.D323N|SENP6_ENST00000327284.8_Missense_Mutation_p.D323N|SENP6_ENST00000447266.2_Missense_Mutation_p.D330N	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	330					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGACCTAAATGATCCAAGTAA	0.313000													3	32					0	0	1	0	0
NRG4	145957	broad.mit.edu	37	15	76248315	76248315	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:76248315C>T	ENST00000394907.3	-	5	470	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	97						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						AGGTTGATATCATACTGGACT	0.408000													23	52					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932483	110932483	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:110932483C>T	ENST00000265171.5	+	24	3941	c.3496C>T	c.(3496-3498)Cat>Tat	p.H1166Y	EGF_ENST00000509793.1_Missense_Mutation_p.H1124Y|EGF_ENST00000503392.1_Missense_Mutation_p.H1125Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1166					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GCGAAGCTTTCATATGCCCTC	0.552000													35	70					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50195635	50195635	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:50195635G>A	ENST00000335999.6	-	6	548	c.347C>T	c.(346-348)cCt>cTt	p.P116L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	112	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTACCTGAGGGAGCGAGCC	0.582000													25	45					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542879	28542879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:28542879G>A	ENST00000452236.2	-	3	2220	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	535					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCAGTTAGCTGAGAATGGGAC	0.408000													29	61					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589627	67589627	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:67589627G>A	ENST00000521381.1	+	11	2006	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	PIK3R1_ENST00000523872.1_Missense_Mutation_p.D101N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D464N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D164N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D464N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D194N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D464N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	464					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)|p.D464H(1)|p.E462_R465delEYDR(1)|p.Y463_L466del(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGAGAATATGATAGATTATA	0.294000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			4	25					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802793	137802793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:137802793G>T	ENST00000239938.4	+	2	927	c.655G>T	c.(655-657)Gag>Tag	p.E219*		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	219			E -> D (in dbSNP:rs28365165).		cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E219K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATTTTCCCTGAGCCACAAAG	0.642000													57	204					7.41606e-26	7.78505e-26	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112876709	112876709	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:112876709G>C	ENST00000161863.4	+	9	1468	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E419Q	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	419							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAGCTCAAGAAAATAGTTT	0.353000													20	30					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320924	52320924	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:52320924G>A	ENST00000356297.4	-	17	3360	c.3260C>T	c.(3259-3261)tCa>tTa	p.S1087L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1087L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1087					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGGACGGTGAAAAGAGCGC	0.507000													26	40					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197483397	197483397	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:197483397G>A	ENST00000241502.3	+	2	426	c.204G>A	c.(202-204)atG>atA	p.M68I	FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000424384.2_Start_Codon_SNP_p.M1I|FYTTD1_ENST00000415708.2_Missense_Mutation_p.M42I	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	68					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AATTCAGGATGAGAGTGCGAT	0.393000													26	160					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794056	21794056	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21794056C>T	ENST00000206660.6	+	16	2434	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R812W|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R774W|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R171W			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	812	C2.		R -> H (does not affect the interaction with NPHP4).		response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGTGGCCTCCGGAGTCGATG	0.507000													13	38					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861431	38861431	+	Nonstop_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:38861431G>C	ENST00000409235.3	+	29	3594	c.3479G>C	c.(3478-3480)tGa>tCa	p.*1160S	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Nonstop_Mutation_p.*1120S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	0					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTGATGACCTGAGTGTCCCAC	0.572000													18	57					0	0	1	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190618673	190618673	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:190618673C>G	ENST00000519810.1	-	6	1274	c.932G>C	c.(931-933)aGa>aCa	p.R311T	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R311T|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.R311T			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	311					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TAACAAGTCTCTCTGCTTACA	0.378000													8	28					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058363	53058363	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:53058363G>A	ENST00000359798.4	+	5	2374	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATAGTGGTGAGAAACCTTA	0.433000													54	182					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823925	38823925	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:38823925G>C	ENST00000303592.3	-	2	471	c.213C>G	c.(211-213)ctC>ctG	p.L71L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	71					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCCGAAAAAGAGCCAGGAGA	0.662000													25	43					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19449572	19449572	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:19449572C>T	ENST00000338883.4	-	7	1149	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D216N|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	384							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGGCGCTGTCGCGGCTGGTG	0.522000													19	11					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195606028	195606028	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:195606028C>G	ENST00000333602.6	-	7	1523	c.906G>C	c.(904-906)ctG>ctC	p.L302L	TNK2_ENST00000392400.1_Silent_p.L302L|TNK2_ENST00000316664.3_Silent_p.L302L|TNK2_ENST00000381916.2_Silent_p.L365L|TNK2_ENST00000428187.1_Silent_p.L334L|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	302	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGCGTGTCTTCAGGCTCTCGG	0.607000													9	199					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44586819	44586819	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:44586819C>T	ENST00000409936.1	-	2	473	c.36G>A	c.(34-36)ttG>ttA	p.L12L	PREPL_ENST00000409272.1_Silent_p.L12L|PREPL_ENST00000410081.1_Silent_p.L12L|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000260648.6_Silent_p.L12L|PREPL_ENST00000378520.3_Silent_p.L12L|PREPL_ENST00000378511.3_Silent_p.L12L|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000541738.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	12					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TACTATACTTCAAAGCTTGGA	0.358000													20	54					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802774	137802774	+	Silent	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:137802774G>T	ENST00000239938.4	+	2	908	c.636G>T	c.(634-636)ccG>ccT	p.P212P		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	212					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCACGCCGAACACTGACA	0.667000													70	225					3.41413e-29	3.59805e-29	1	1	0
GOT2	2806	broad.mit.edu	37	16	58742194	58742194	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:58742194C>G	ENST00000245206.5	-	10	1302	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	GOT2_ENST00000434819.2_Missense_Mutation_p.E349Q	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	392					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATCAGCCGCTCCACCTGCAGA	0.557000													19	22					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808036	82808036	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:82808036G>C	ENST00000265077.3	+	6	1428	c.863G>C	c.(862-864)aGg>aCg	p.R288T	VCAN_ENST00000513984.1_Missense_Mutation_p.R288T|VCAN_ENST00000512590.2_Missense_Mutation_p.R240T|VCAN_ENST00000342785.4_Missense_Mutation_p.R288T|VCAN_ENST00000502527.2_Missense_Mutation_p.R288T|VCAN_ENST00000343200.5_Missense_Mutation_p.R288T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	288	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCGGCATGGAGGAACGGCTTT	0.602000													8	29					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26370859	26370859	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:26370859G>A	ENST00000374276.3	-	3	584	c.348C>T	c.(346-348)atC>atT	p.I116I	SLC30A2_ENST00000374278.3_Intron|SLC30A2_ENST00000498060.1_5'UTR	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGCTGATGAGCATGC	0.592000													10	29					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7469743	7469743	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:7469743G>A	ENST00000399422.4	+	4	679	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	211					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTCGCCTCTGAAGAGCACAG	0.483000													9	25					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78403629	78403629	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:78403629C>T	ENST00000518137.1	+	9	864	c.836C>T	c.(835-837)tCa>tTa	p.S279L	ENDOV_ENST00000522751.1_Missense_Mutation_p.S85L|ENDOV_ENST00000520367.1_Missense_Mutation_p.S234L|ENDOV_ENST00000518901.1_Missense_Mutation_p.S85L|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000517795.1_Missense_Mutation_p.S85L|ENDOV_ENST00000517295.2_Missense_Mutation_p.S207L|ENDOV_ENST00000323854.5_Missense_Mutation_p.S234L|ENDOV_ENST00000518907.1_Intron	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	279					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GGAGAGTCCTCAGGTGAGGGC	0.657000								Direct reversal of damage					23	74					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6267454	6267454	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:6267454G>A	ENST00000377939.4	+	3	334	c.207G>A	c.(205-207)ctG>ctA	p.L69L	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	69						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGACGGTGCTGAAGGGTCCCA	0.672000													4	16					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75868828	75868828	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:75868828G>A	ENST00000211998.4	+	18	2753	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	VCL_ENST00000417648.2_Missense_Mutation_p.E148K|VCL_ENST00000372755.3_Missense_Mutation_p.E887K	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	887	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGAGTTCCCTGAGCAGAAGGC	0.547000													19	36					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983603	97983603	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:97983603C>G	ENST00000383696.2	+	1	516	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACTATGCATTCAGCTATTAGT	0.353000													15	58					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983377	11983377	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11983377G>A	ENST00000376572.3	-	2	1388	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	KIAA2013_ENST00000376576.3_Silent_p.F401F	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	401						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGCCCGCTGAAGCAGTGAT	0.647000													18	43					0	0	1	0	0
GPR50-AS1	100128688	broad.mit.edu	37	X	150345081	150345081	+	RNA	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:150345081G>C	ENST00000454196.1	-	0	541																											CTGACTCTCAGAGAGGGAGGC	0.582000													13	1					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110201668	110201668	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:110201668G>A	ENST00000369833.1	+	5	1294	c.380G>A	c.(379-381)cGt>cAt	p.R127H	GSTM4_ENST00000326729.5_Missense_Mutation_p.R168H|GSTM4_ENST00000369836.4_Missense_Mutation_p.R168H|GSTM4_ENST00000336075.5_Missense_Mutation_p.R107H|GSTM4_ENST00000495742.1_3'UTR			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	168	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GACCTCCACCGTATATTTGAG	0.498000													5	492					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411033	105411033	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:105411033C>G	ENST00000333244.5	-	7	10874	c.10755G>C	c.(10753-10755)ctG>ctC	p.L3585L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3585						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602000													87	171					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109685501	109685501	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109685501G>A	ENST00000338432.7	+	40	5781	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	ACACB_ENST00000377854.5_Missense_Mutation_p.E1818K|ACACB_ENST00000377848.3_Missense_Mutation_p.E1888K|ACACB_ENST00000543201.1_Missense_Mutation_p.E554K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1888	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAAGGAGGAGAGTCCAGGTA	0.443000													23	65					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962146	1962146	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:1962146G>A	ENST00000454677.2	-	2	590	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HS3ST6_ENST00000293937.3_Silent_p.F158F|HS3ST6_ENST00000443547.1_Silent_p.F127F			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	127										endometrium(2)|lung(2)	4						CTCGCGTCACGAAGTAGCTGG	0.677000													7	15					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56648829	56648829	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:56648829G>C	ENST00000336078.4	+	10	4167	c.3391G>C	c.(3391-3393)Gaa>Caa	p.E1131Q	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.E1131Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E1131Q|ZNF532_ENST00000591230.1_Missense_Mutation_p.E1131Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.E1131Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GGAGGAAACAGAAATAAAAGA	0.403000													20	32					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44513041	44513041	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44513041G>C	ENST00000429154.2	+	3	343	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ZNF230_ENST00000585632.1_Missense_Mutation_p.E39Q	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CGTGATGCTTGAGAACTTCAC	0.527000													87	130					0	0	1	0	0
CTDSP2	10106	broad.mit.edu	37	12	58220809	58220809	+	Silent	SNP	G	G	A	rs78691025		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:58220809G>A	ENST00000398073.2	-	4	627	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	108	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGGTTTCATCGAGGTCAATGA	0.488000													26	45					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90364054	90364054	+	Splice_Site	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:90364054C>T	ENST00000369393.3	-	93	15606		c.e93-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGGCCACATCTGTCAACAAA	0.443000													90	166					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10264799	10264799	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:10264799G>C	ENST00000280326.4	+	11	1950	c.1530G>C	c.(1528-1530)ttG>ttC	p.L510F	CCT5_ENST00000506600.1_Missense_Mutation_p.L417F|CCT5_ENST00000503026.1_Missense_Mutation_p.L489F|CCT5_ENST00000515390.1_Missense_Mutation_p.L455F|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.L472F	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	510					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAGAAACCTTGATTGGCAAAA	0.338000													37	71					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56572247	56572247	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56572247C>T	ENST00000394023.3	-	14	1356	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	SMARCC2_ENST00000550164.1_Silent_p.V417V|SMARCC2_ENST00000347471.4_Silent_p.V417V|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.V417V	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	417					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGTTCAGTCACATTGTCCT	0.502000													4	103					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006318	16006318	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:16006318G>A	ENST00000221700.5	-	3	436	c.341C>T	c.(340-342)tCa>tTa	p.S114L	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	114					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGGTACCTGAGGCGTTGAT	0.607000													51	156					0	0	1	0	0
WDR61	80349	broad.mit.edu	37	15	78581964	78581964	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:78581964C>T	ENST00000267973.2	-	7	830	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	WDR61_ENST00000558459.1_Missense_Mutation_p.E94K|WDR61_ENST00000558311.1_Missense_Mutation_p.E187K			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	187							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TATATACCTTCCAGGGTATGC	0.363000													12	49					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43022882	43022882	+	Silent	SNP	C	C	T	rs148759214		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43022882C>T	ENST00000356231.3	-	14	2111	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	696						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAAACTCCACCAGCCAGGGCA	0.632000													8	19					0	0	1	0	0
TOMM5	401505	broad.mit.edu	37	9	37592509	37592509	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:37592509G>C	ENST00000377773.5	-	1	85	c.21C>G	c.(19-21)ctC>ctG	p.L7L	RP11-613M10.9_ENST00000540557.1_Intron|TOMM5_ENST00000321301.6_Silent_p.L7L|TOMM5_ENST00000401811.3_Silent_p.L7L|TOMM5_ENST00000544379.1_Silent_p.L7L	NM_001134484.1|NM_001134485.1	NP_001127956.1|NP_001127957.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	7						integral to membrane|mitochondrial outer membrane translocase complex											GCTTCGGCGCGAGGCCCTCAA	0.632000													18	30					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232479	21232479	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:21232479C>G	ENST00000233242.1	-	26	7388	c.7261G>C	c.(7261-7263)Gac>Cac	p.D2421H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2421					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAACATGTCAAGGAATTTG	0.313000													10	32					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109678960	109678960	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109678960C>G	ENST00000338432.7	+	36	5015	c.4896C>G	c.(4894-4896)gtC>gtG	p.V1632V	ACACB_ENST00000377854.5_Silent_p.V1562V|ACACB_ENST00000377848.3_Silent_p.V1632V|ACACB_ENST00000543201.1_Silent_p.V298V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1632					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGCTGAGGTCAAGATCAACA	0.572000													51	143					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837685	124837685	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:124837685G>A	ENST00000423114.2	-	8	926	c.927C>T	c.(925-927)atC>atT	p.I309I	SLC12A8_ENST00000469902.1_Silent_p.I280I|SLC12A8_ENST00000393469.4_Silent_p.I280I|SLC12A8_ENST00000430155.2_Silent_p.I81I|SLC12A8_ENST00000314584.7_Silent_p.I33I|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	280					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGACGAAGATGATGTACAGAA	0.562000													3	32					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176764408	176764408	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:176764408G>A	ENST00000303127.7	-	5	835	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	LMAN2_ENST00000515209.1_Missense_Mutation_p.H211Y	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	211	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTGTCGTGATCGCGGTTG	0.667000													8	26					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86259714	86259714	+	Splice_Site	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:86259714G>A	ENST00000224756.8	+	10	2594	c.2410_splice	c.e10+1	p.Q803_splice	CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000543283.1_Splice_Site_p.Q230_splice|CCSER2_ENST00000494144.1_Intron	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		ACCGCAGACAGAGTGAGTCTG	0.567000													25	45					0	0	1	0	0
C5orf24	134553	broad.mit.edu	37	5	134190687	134190687	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:134190687G>C	ENST00000394976.3	+	2	325	c.97G>C	c.(97-99)Gac>Cac	p.D33H	C5orf24_ENST00000338051.4_Missense_Mutation_p.D33H|C5orf24_ENST00000504727.1_Missense_Mutation_p.D33H|C5orf24_ENST00000435259.2_Missense_Mutation_p.D33H	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	33										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGATCAGTTTGACATATATTC	0.468000													59	124					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719513	40719513	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:40719513G>A	ENST00000253055.3	+	9	2215	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	643					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACTGCCTGCCGAGCCCTcccc	0.761000													13	7					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111678260	111678260	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:111678260C>G	ENST00000435970.1	-	20	7723	c.6907G>C	c.(6907-6909)Gat>Cat	p.D2303H	REV3L_ENST00000368802.3_Missense_Mutation_p.D2381H|REV3L_ENST00000368805.1_Missense_Mutation_p.D2381H|REV3L_ENST00000358835.3_Missense_Mutation_p.D2381H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2381					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCTTCTCATCAGCAGCATAG	0.303000								DNA polymerases (catalytic subunits)					28	74					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15545832	15545832	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:15545832G>C	ENST00000428417.1	+	3	801	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	TMEM51_ENST00000376008.2_Missense_Mutation_p.E119Q|TMEM51_ENST00000434578.2_Missense_Mutation_p.K117N|TMEM51_ENST00000400796.3_Missense_Mutation_p.E119Q|TMEM51_ENST00000376014.3_Missense_Mutation_p.E119Q	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	119						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCAGGAGGAAGAAGAGGAGGA	0.517000													6	43					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31267910	31267910	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:31267910G>A	ENST00000579849.1	+	8	1011	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.E194K	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	194						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GTCGGCTGCTGAGGAGCATTT	0.572000													21	46					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313540	1313540	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:1313540G>C	ENST00000296839.2	+	1	866	c.601G>C	c.(601-603)Gag>Cag	p.E201Q		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	201					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CCCCAACAGCGAGTACACCTT	0.721000													20	38					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62636530	62636530	+	Missense_Mutation	SNP	A	A	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:62636530A>G	ENST00000383710.4	-	5	1544	c.1195T>C	c.(1195-1197)Tca>Cca	p.S399P	CADPS_ENST00000357948.3_Missense_Mutation_p.S399P|CADPS_ENST00000283269.9_Missense_Mutation_p.S399P|CADPS_ENST00000490353.2_Missense_Mutation_p.S399P	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	399					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCTCCAATGAGAAAGACAGC	0.488000													10	38					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5022018	5022018	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:5022018G>C	ENST00000256495.3	+	3	786	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	61						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GGCTCATCGAGAAAAAGAGAC	0.572000											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	33					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192160862	192160862	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:192160862C>T	ENST00000392318.3	+	3	408	c.161C>T	c.(160-162)tCt>tTt	p.S54F	MYO1B_ENST00000339514.4_Missense_Mutation_p.S54F|MYO1B_ENST00000392316.1_Missense_Mutation_p.S54F|MYO1B_ENST00000304164.4_Missense_Mutation_p.S54F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	54	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTGGTTATATCTGTTAACCCA	0.358000													9	19					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870601	135870601	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:135870601C>T	ENST00000309993.2	-	2	1854	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MSL2_ENST00000434835.2_Silent_p.V300V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	374					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTCCCGTTTCACTGTCACAG	0.443000													45	72					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7123805	7123805	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7123805C>T	ENST00000356839.5	+	3	340	c.161C>T	c.(160-162)tCc>tTc	p.S54F	ACADVL_ENST00000581562.1_3'UTR|ACADVL_ENST00000543245.2_Missense_Mutation_p.S77F|ACADVL_ENST00000350303.5_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	54	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AAGTCAGATTCCCACCCCTCT	0.597000													26	57					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89010392	89010392	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:89010392G>A	ENST00000312475.4	-	1	258	c.217C>T	c.(217-219)Cta>Tta	p.L73L		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	73						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGCTGCAGTAGAGACGCCATC	0.537000													15	34					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101443560	101443560	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:101443560G>C	ENST00000341893.3	+	1	792	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	CEP97_ENST00000494050.1_Missense_Mutation_p.E14Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E14Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	14						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCTCCCGGAGAAGGTAAGGC	0.532000													16	42					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45147827	45147827	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:45147827G>A	ENST00000458659.2	-	1	2874	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	795	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGTTAACAAGGAACTTTGGGA	0.473000													37	105					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31545220	31545220	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:31545220G>C	ENST00000389082.5	-	19	3711	c.3447C>G	c.(3445-3447)gtC>gtG	p.V1149V	DENND5B_ENST00000306833.6_Silent_p.V1184V|DENND5B_ENST00000536562.1_Silent_p.V1184V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1149	RUN 2.			V -> A (in Ref. 1; BAC04583).		integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATGAAGACATTCTTGT	0.443000													18	23					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012484	90012484	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:90012484G>A	ENST00000405460.2	+	43	9481	c.9385G>A	c.(9385-9387)Gaa>Aaa	p.E3129K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3129					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCCTCAAATGAATCTAAAGA	0.383000													12	26					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39064535	39064535	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:39064535C>T	ENST00000261425.3	+	2	415	c.263C>T	c.(262-264)tCt>tTt	p.S88F	KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261426.5_Missense_Mutation_p.S134F|KLHL5_ENST00000359687.2_Missense_Mutation_p.S134F|KLHL5_ENST00000381930.3_Missense_Mutation_p.S134F|KLHL5_ENST00000504108.1_Missense_Mutation_p.S134F	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	134						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCATCCACCTCTGAAGTCCCT	0.463000													37	45					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13446697	13446697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:13446697C>T	ENST00000360228.5	-	7	1004	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.W335*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	335					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACAACCAGTTCCAAGTGTTCC	0.527000													3	25					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477256	42477256	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:42477256C>G	ENST00000434000.1	-	9	2237	c.1955G>C	c.(1954-1956)gGa>gCa	p.G652A	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G730A			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	730						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGTTTGGGTCCTCGTTCAGA	0.532000													19	66					0	0	1	0	0
CST3	1471	broad.mit.edu	37	20	23615961	23615961	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:23615961C>T	ENST00000398411.1	-	2	369	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	CST3_ENST00000398409.1_Missense_Mutation_p.R96Q|CST3_ENST00000376925.3_Missense_Mutation_p.R96Q			P01034	CYTC_HUMAN	cystatin C	96					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ACACGTGGTTCGGCCCAGCTC	0.537000													5	38					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778014	44778014	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44778014G>C	ENST00000391958.2	+	5	1328	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.D383H	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTGTAAATGTGATGTATATGA	0.438000													18	48					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852279	97852279	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:97852279C>G	ENST00000354565.2	+	1	738	c.738C>G	c.(736-738)ttC>ttG	p.F246L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCCATCTCTTCTCTGTCTCTT	0.413000													29	46					0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79637270	79637270	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:79637270G>A	ENST00000329214.8	+	3	687	c.284G>A	c.(283-285)aGa>aAa	p.R95K		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	95										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGACCTTCAGAAAGACATTG	0.587000													7	18					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55663095	55663095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:55663095C>A	ENST00000373965.2	-	27	3824	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E748*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1100*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1144*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1066*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1142*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1137*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1115*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1137	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATTATTTTCATCCTGAATC	0.388000										HNSCC(58;0.16)			15	31					2.48551e-13	2.58646e-13	1	1	0
UPF1	5976	broad.mit.edu	37	19	18961674	18961674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:18961674G>A	ENST00000262803.5	+	5	1079	c.807G>A	c.(805-807)tgG>tgA	p.W269*	UPF1_ENST00000599848.1_Nonsense_Mutation_p.W269*|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	269	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						AGGAGCTGTGGAAGGTGGGGC	0.647000													4	14					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512069	61512069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:61512069G>A	ENST00000266070.4	-	16	5564	c.5239C>T	c.(5239-5241)Cag>Tag	p.Q1747*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1747*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1747	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.Q1747E(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACGGGGGCTGAGAGCCCCCC	0.682000													24	80					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197476886	197476886	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:197476886C>T	ENST00000241502.3	+	1	266	c.44C>T	c.(43-45)tCt>tTt	p.S15F	FYTTD1_ENST00000428395.2_Intron|FYTTD1_ENST00000415708.2_Intron	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	15					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ACGGCGACTTCTTCGCCGCCG	0.652000													16	25					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043206	43043206	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:43043206C>G	ENST00000316099.3	+	5	641	c.552C>G	c.(550-552)atC>atG	p.I184M	HNF4A_ENST00000415691.1_Missense_Mutation_p.I184M|HNF4A_ENST00000443598.2_Missense_Mutation_p.I184M|HNF4A_ENST00000457232.1_Missense_Mutation_p.I162M	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	184					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGCCAGCATCGCAGATGTGT	0.572000													13	34					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915424	67915424	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:67915424C>T	ENST00000358933.5	+	21	3053	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	938					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GATCCCGGCTCACAGAGCACC	0.592000													22	45					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20100994	20100994	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:20100994C>G	ENST00000252136.7	-	9	1781	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	TRMT2A_ENST00000439169.2_Missense_Mutation_p.E483Q|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E465Q|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E465Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	465					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TCCACAGCCTCTGGGCATAGC	0.662000													12	31					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273310	145273310	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:145273310C>T	ENST00000369340.3	+	4	608	c.164C>T	c.(163-165)tCa>tTa	p.S55L	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S55L|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S55L|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S55L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	55	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CGATGTGCCTCAGGGTTTACA	0.562000													30	359					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008457	34008457	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:34008457C>T	ENST00000373381.4	-	58	9316	c.9140G>A	c.(9139-9141)cGa>cAa	p.R3047Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3022	Sushi 23.					integral to membrane|plasma membrane	protein binding	p.R2903L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAACACAACTCGGGCATTACT	0.517000													5	20					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33872098	33872098	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:33872098G>A	ENST00000374443.3	-	2	242	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	EIF6_ENST00000374436.3_Intron|EIF6_ENST00000374450.3_Intron|EIF6_ENST00000462894.1_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	65					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGCGGGGCAGAGGGGCCGGC	0.687000													55	96					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135116365	135116365	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:135116365G>A	ENST00000393229.3	+	7	2067	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000360670.3_Missense_Mutation_p.E437K|NTNG2_ENST00000393228.4_Missense_Mutation_p.E423K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	431	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGAGTGCCGCGAGGGCGCGGC	0.721000													7	22					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32404565	32404565	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:32404565C>G	ENST00000357033.4	-	33	4742	c.4536G>C	c.(4534-4536)ctG>ctC	p.L1512L	DMD_ENST00000378677.2_Silent_p.L1508L	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	1512	Interaction with SYNM (By similarity).				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)				TCACTTCACTCAGACTTTTAT	0.303000													14	11					0	0	1	0	0
RANGRF	29098	broad.mit.edu	37	17	8192666	8192666	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:8192666G>C	ENST00000439238.3	+	3	396	c.285G>C	c.(283-285)ctG>ctC	p.L95L	RANGRF_ENST00000226105.6_Silent_p.L95L|SLC25A35_ENST00000580340.1_3'UTR|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000407006.4_Silent_p.L95L|RANGRF_ENST00000580434.1_Silent_p.L95L			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	95				ALR -> PE (in Ref. 3; AAF36156).	protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						ACCTGGCCCTGAGGGGCCGCT	0.582000													16	43					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991626	144991626	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:144991626C>T	ENST00000322810.4	-	32	12943	c.12774G>A	c.(12772-12774)ctG>ctA	p.L4258L	PLEC_ENST00000398774.2_Silent_p.L4089L|PLEC_ENST00000345136.3_Silent_p.L4121L|PLEC_ENST00000354958.2_Silent_p.L4099L|PLEC_ENST00000357649.2_Silent_p.L4125L|PLEC_ENST00000356346.3_Silent_p.L4107L|PLEC_ENST00000354589.3_Silent_p.L4121L|PLEC_ENST00000436759.2_Silent_p.L4148L|PLEC_ENST00000527096.1_Silent_p.L4144L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4258	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTCTCCTTCAGCGGCAAGA	0.602000													8	78					0	0	1	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950253	110950253	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:110950253G>A	ENST00000256644.4	-	1	311	c.236C>T	c.(235-237)tCg>tTg	p.S79L	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000602318.1_5'UTR|LAMTOR5-AS1_ENST00000457535.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		CCCACCCACCGACCACTCCGG	0.657000													13	33					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568884	102568884	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:102568884C>G	ENST00000370296.2	+	8	1429	c.879C>G	c.(877-879)ctC>ctG	p.L293L	PAX2_ENST00000556085.1_Silent_p.L269L|PAX2_ENST00000361791.3_Silent_p.L270L|PAX2_ENST00000355243.3_Silent_p.L270L|PAX2_ENST00000428433.1_Silent_p.L293L			Q02962	PAX2_HUMAN	paired box 2	293					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGTACTCCCTCCCAGCCCTGA	0.567000													49	83					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944281	41944281	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41944281G>C	ENST00000221943.9	-	2	62	c.57C>G	c.(55-57)atC>atG	p.I19M	ATP5SL_ENST00000438807.3_Missense_Mutation_p.I19M|ATP5SL_ENST00000417807.3_Missense_Mutation_p.I25M|ATP5SL_ENST00000597457.1_Missense_Mutation_p.I19M|ATP5SL_ENST00000301183.11_Missense_Mutation_p.I25M|ATP5SL_ENST00000595425.1_Missense_Mutation_p.I19M|ATP5SL_ENST00000592922.2_Missense_Mutation_p.I19M|ATP5SL_ENST00000590641.2_Missense_Mutation_p.I25M|ATP5SL_ENST00000589970.1_Missense_Mutation_p.I19M	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	19										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGATGCCCCTGATACGCCCAT	0.597000													15	53					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865326	148865326	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:148865326C>G	ENST00000367467.3	+	18	3195	c.2720C>G	c.(2719-2721)aCa>aGa	p.T907R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	907							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGAAATTGACAACTAAGAAA	0.532000													64	134					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64082613	64082613	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:64082613G>C	ENST00000405666.1	+	6	1117	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.E294Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.E295Q			P11474	ERR1_HUMAN	estrogen-related receptor alpha	295	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CCTGGATGAAGAGGGGGCACG	0.662000													8	16					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11090897	11090897	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:11090897C>G	ENST00000537503.1	-	1	965	c.910G>C	c.(910-912)Gat>Cat	p.D304H	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	304					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	p.D163N(1)|p.D304N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GGCTCCCCATCTTTGAACATG	0.373000													20	45					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157521838	157521838	+	Splice_Site	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157521838G>A	ENST00000346085.5	+	18	4111		c.e18-1		ARID1B_ENST00000367148.1_Splice_Site|ARID1B_ENST00000350026.5_Splice_Site|ARID1B_ENST00000275248.4_Splice_Site	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGAATTCCAGAATTACAAAC	0.453000													5	83					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906079	164906079	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:164906079G>A	ENST00000475390.1	-	2	2983	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S847L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	847						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AACTACTCCTGAAACCCCACC	0.572000										HNSCC(40;0.11)			72	115					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536298	186536298	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:186536298C>T	ENST00000431808.1	-	17	3218	c.2655G>A	c.(2653-2655)aaG>aaA	p.K885K	SORBS2_ENST00000284776.7_Silent_p.K885K|SORBS2_ENST00000449407.2_Silent_p.K429K|SORBS2_ENST00000448662.2_Silent_p.K446K|SORBS2_ENST00000437304.2_Silent_p.K609K|SORBS2_ENST00000418609.1_Silent_p.K789K|SORBS2_ENST00000393528.3_Silent_p.K451K|SORBS2_ENST00000355634.5_Silent_p.K985K|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Silent_p.K516K			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	885	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TATCTCCTTTCTTAAATGACA	0.433000													12	27					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312464	120312464	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:120312464C>T	ENST00000397843.2	+	14	1307	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R362C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R278C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	381	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACTAAAATCTCGCCCGGCTCA	0.373000			T	MLL	AML								42	39					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639154	97639154	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:97639154G>C	ENST00000298440.1	-	4	1103	c.860C>G	c.(859-861)tCt>tGt	p.S287C	OXGR1_ENST00000543457.1_Missense_Mutation_p.S287C	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	287						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TAATGGTCTAGAAACGATGTA	0.438000													17	58					0	0	1	0	0
RNASE12	493901	broad.mit.edu	37	14	21058670	21058670	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:21058670C>T	ENST00000556526.1	-	1	312	c.213G>A	c.(211-213)gaG>gaA	p.E71E	RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA|RNASE11_ENST00000335950.4_5'UTR	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	71						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TTCGAGGCCTCTCATGGATGA	0.433000													22	58					0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119256113	119256113	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:119256113G>C	ENST00000264246.3	-	4	933	c.571C>G	c.(571-573)Caa>Gaa	p.Q191E	CD80_ENST00000478182.1_Missense_Mutation_p.Q191E|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.Q191E	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	191	Ig-like C2-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TCAGGATCTTGGGAAACTGTT	0.418000													65	111					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7605588	7605588	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7605588G>A	ENST00000221249.6	+	9	1101	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	PNPLA6_ENST00000545201.2_Missense_Mutation_p.V224I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.V272I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V263I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.V224I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	263					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CATCCTGGATGTCATCACCGT	0.582000													26	99					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4700382	4700382	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:4700382G>A	ENST00000399577.5	+	2	198	c.105G>A	c.(103-105)tcG>tcA	p.S35S	MGRN1_ENST00000262370.7_Silent_p.S35S|MGRN1_ENST00000588994.1_Silent_p.S35S|MGRN1_ENST00000415496.1_Silent_p.S35S|MGRN1_ENST00000586183.1_Silent_p.S35S	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	35					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACTTTGCTTCGCACTTTTTCA	0.458000													32	83					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11736195	11736195	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11736195G>C	ENST00000235310.3	-	8	1263	c.335C>G	c.(334-336)tCa>tGa	p.S112*	MAD2L2_ENST00000376667.3_Nonsense_Mutation_p.S112*|MAD2L2_ENST00000376672.1_Nonsense_Mutation_p.S125*|MAD2L2_ENST00000376692.4_Nonsense_Mutation_p.S112*|MAD2L2_ENST00000376669.5_Nonsense_Mutation_p.S125*			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	112	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGAGTCTGAGCTGGGAGT	0.622000								DNA polymerases (catalytic subunits)					9	15					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104070394	104070394	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:104070394C>T	ENST00000265148.3	-	27	3657	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1165K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1190					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATAATTTTCATTAAGTTTC	0.308000													23	27					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284578	45284578	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:45284578C>T	ENST00000270279.3	+	3	678	c.615C>T	c.(613-615)caC>caT	p.H205H	CBLC_ENST00000341505.4_Silent_p.H205H	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	205	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCAGCGGGCACGTGTCCATCT	0.617000			M		AML								4	83					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87655966	87655966	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:87655966G>A	ENST00000436978.1	+	14	2569	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	PTPN13_ENST00000316707.6_Missense_Mutation_p.E697K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E697K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E697K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E697K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	697	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTGTGATGATGAGACTTCCTT	0.413000													44	88					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70005647	70005647	+	Missense_Mutation	SNP	G	G	C	rs147682682		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:70005647G>C	ENST00000352241.4	+	8	1142	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	MITF_ENST00000472437.1_Missense_Mutation_p.E275Q|MITF_ENST00000328528.6_Missense_Mutation_p.E326Q|MITF_ENST00000394355.2_Missense_Mutation_p.E302Q|MITF_ENST00000531774.1_Missense_Mutation_p.E164Q|MITF_ENST00000448226.2_Missense_Mutation_p.E333Q|MITF_ENST00000394351.3_Missense_Mutation_p.E226Q|MITF_ENST00000314589.5_Missense_Mutation_p.E311Q|MITF_ENST00000314557.6_Missense_Mutation_p.E220Q	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	333	Helix-loop-helix motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCGCATTAAAGAACTAGGTAC	0.363000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						14	30					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795215	91795215	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:91795215C>T	ENST00000394232.1	+	3	1088	c.618C>T	c.(616-618)ctC>ctT	p.L206L	SV2B_ENST00000545111.2_Silent_p.L55L|SV2B_ENST00000330276.4_Silent_p.L206L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	206					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTGCCGACTCATCTCAGGCA	0.547000													28	52					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134212881	134212881	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:134212881G>A	ENST00000367882.4	+	2	741	c.481G>A	c.(481-483)Gag>Aag	p.E161K	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E161K	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CGGGAAACCCGAGAGTGACCT	0.657000													21	37					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18669025	18669025	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:18669025G>A	ENST00000406451.3	+	7	858	c.708G>A	c.(706-708)gaG>gaA	p.E236E	HDAC9_ENST00000432645.2_Silent_p.E236E|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000405010.3_Silent_p.E236E|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000441542.2_Silent_p.E239E|HDAC9_ENST00000456174.2_Silent_p.E208E|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000406072.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	236	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGTGGCAGAGAGGAGAAGCA	0.428000													12	15					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33318806	33318806	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:33318806G>A	ENST00000378526.4	+	6	1291	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	LIG3_ENST00000262327.5_Silent_p.K386K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	386					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GGCTGTCCAAGCTCACCAAGG	0.552000								Other BER factors					22	51					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32324561	32324561	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:32324561C>T	ENST00000302418.4	-	10	1308	c.851G>A	c.(850-852)aGa>aAa	p.R284K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	284	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTGAAGGATTCTTGTCATTTT	0.313000			T	"""RET, ALK"""	NSCLC								11	32					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112326071	112326071	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:112326071C>G	ENST00000206423.3	-	7	3411	c.2458G>C	c.(2458-2460)Ggc>Cgc	p.G820R	CCDC80_ENST00000439685.2_Missense_Mutation_p.G820R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	820										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTCCAACGCCTAAAAGCTTC	0.378000													33	48					0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30782829	30782829	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:30782829G>C	ENST00000380615.3	-	11	1488	c.1321C>G	c.(1321-1323)Cca>Gca	p.P441A	KATNAL1_ENST00000380617.3_Missense_Mutation_p.P441A	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	441						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATTTCTTCTGGACTTAAGCCA	0.388000													9	25					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54481432	54481432	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:54481432C>G	ENST00000270458.2	+	2	419	c.316C>G	c.(316-318)Cat>Gat	p.H106D		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	106					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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAAGATCAATCATTTCCCGGA	0.637000													6	9					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29366599	29366599	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:29366599G>A	ENST00000320081.5	+	7	928	c.673G>A	c.(673-675)Gat>Aat	p.D225N	CLIP4_ENST00000404424.1_Missense_Mutation_p.D225N|CLIP4_ENST00000401605.1_Missense_Mutation_p.D225N|CLIP4_ENST00000401617.2_Missense_Mutation_p.D118N	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	225										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GATCCCTGCTGATGTTGTTCC	0.423000													23	56					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147803613	147803613	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:147803613G>A	ENST00000340253.5	+	13	1839	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	FBXO38_ENST00000394370.3_Silent_p.E557E|FBXO38_ENST00000513826.1_Silent_p.E557E|FBXO38_ENST00000296701.6_Silent_p.E557E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	557						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCCGAGAGTGGAAATA	0.403000													28	45					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561810	11561810	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:11561810C>T	ENST00000294484.6	+	2	899	c.761C>T	c.(760-762)tCg>tTg	p.S254L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S254L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGAGGCGCCTCGCGCTGGGAC	0.706000													5	6					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124050611	124050611	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:124050611G>A	ENST00000368994.2	+	7	746	c.495G>A	c.(493-495)ctG>ctA	p.L165L	BTBD16_ENST00000260723.4_Silent_p.L164L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	164	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCACGGCCCTGAAGAACCTCT	0.597000													57	114					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7222436	7222436	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7222436G>A	ENST00000399464.2	-	22	3632	c.3617C>T	c.(3616-3618)tCt>tTt	p.S1206F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S1182F|RP11-542C16.2_ENST00000575474.1_Silent_p.L20L|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1204F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCACAGGCAGAAGCAGGGAA	0.597000													21	46					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600013	42600013	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:42600013G>A	ENST00000389341.5	-	9	750	c.684C>T	c.(682-684)ttC>ttT	p.F228F	POU2F2_ENST00000533720.1_Silent_p.F228F|POU2F2_ENST00000560398.1_Silent_p.F250F|POU2F2_ENST00000529952.1_Silent_p.F244F|POU2F2_ENST00000342301.4_Silent_p.F244F|POU2F2_ENST00000560558.1_Silent_p.F189F|POU2F2_ENST00000529067.1_Silent_p.F228F|POU2F2_ENST00000526816.2_Silent_p.F244F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	244	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TGAGGGCCTCGAAGCGGGAAA	0.622000													65	101					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138219004	138219004	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:138219004C>G	ENST00000264982.3	-	16	1866	c.1600G>C	c.(1600-1602)Gaa>Caa	p.E534Q	CEP70_ENST00000481834.1_Missense_Mutation_p.E534Q|CEP70_ENST00000542237.1_Missense_Mutation_p.E514Q|CEP70_ENST00000489254.1_Missense_Mutation_p.E382Q|CEP70_ENST00000484888.1_Missense_Mutation_p.E534Q	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	534					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTCACATCTTCATTAATCAGC	0.373000													12	160					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1918023	1918023	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1918023C>T	ENST00000358771.4	+	8	1476	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	SIRPA_ENST00000400068.3_Missense_Mutation_p.P446S|SIRPA_ENST00000356025.3_Missense_Mutation_p.P442S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	442					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAAGCCTGCTCCCCAGGCTGC	0.542000													23	63					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:29628296A>T	ENST00000278882.3	+	6	678	c.298A>T	c.(298-300)Aaa>Taa	p.K100*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363000													5	74					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595626	31595626	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:31595626G>A	ENST00000376033.2	+	12	1609	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E459K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	459	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GTCGTCATCTGAGATTTCCCT	0.627000													42	80					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5776273	5776273	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:5776273C>T	ENST00000381624.3	+	21	2104	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	681						integral to membrane											AGATCATTTTCGGCCACAATG	0.557000													22	23					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53513068	53513068	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:53513068C>T	ENST00000262133.6	+	18	2843	c.2706C>T	c.(2704-2706)gtC>gtT	p.V902V	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	902	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTGCCAGGTCACAAAAGAAG	0.458000													16	51					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148757389	148757389	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:148757389G>C	ENST00000310053.5	-	22	2787	c.2594C>G	c.(2593-2595)tCt>tGt	p.S865C	HLTF_ENST00000465259.1_Missense_Mutation_p.S864C|HLTF_ENST00000392912.2_Missense_Mutation_p.S865C|HLTF_ENST00000494055.1_Missense_Mutation_p.S865C	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	865	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTATTAAAGACAGGAATGT	0.299000													6	25					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39070334	39070334	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:39070334C>G	ENST00000295373.6	-	12	2364	c.2238G>C	c.(2236-2238)ggG>ggC	p.G746G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	746							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TATATGGGCTCCCATCCTGTA	0.448000													19	29					0	0	1	0	0
ELP6	54859	broad.mit.edu	37	3	47545864	47545864	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:47545864G>A	ENST00000296149.4	-	4	449	c.279C>T	c.(277-279)gtC>gtT	p.V93V	ELP6_ENST00000446787.1_Silent_p.V20V|ELP6_ENST00000439305.1_Silent_p.V20V	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6																		CCTGGAAGACGACGTCCACTG	0.587000													5	76					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157150436	157150436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:157150436C>T	ENST00000346085.5	+	2	1619	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	540					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTCTCAGCCTCAGCAGAGCAG	0.567000													10	76					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37343170	37343170	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:37343170C>T	ENST00000394303.3	-	5	634	c.427G>A	c.(427-429)Gac>Aac	p.D143N	CACNB1_ENST00000344140.5_Missense_Mutation_p.D143N|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.D143N	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	143	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATCCACCAGTCATTATTGTAT	0.552000													22	34					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14276215	14276215	+	RNA	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:14276215G>A	ENST00000310358.7	+	0	1567							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCTGGGTCCAGAAGGTGGTGC	0.572000													5	58					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83218270	83218270	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:83218270C>A	ENST00000563800.1	-	9	3145	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	CPEB1_ENST00000398591.2_Missense_Mutation_p.D377Y|CPEB1_ENST00000398592.2_Missense_Mutation_p.D221Y|CPEB1_ENST00000423133.2_Missense_Mutation_p.D372Y|RP11-152F13.10_ENST00000562833.1_Silent_p.T181T|CPEB1_ENST00000568757.1_Missense_Mutation_p.D372Y|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.D447Y|CPEB1_ENST00000562019.1_Missense_Mutation_p.D452Y|CPEB1_ENST00000564522.1_Missense_Mutation_p.D372Y|CPEB1_ENST00000261723.6_Missense_Mutation_p.D450Y|CPEB1_ENST00000450751.2_Missense_Mutation_p.D372Y			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	452	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAAATAGGTCGTTCAAGATG	0.542000													4	52					0.150653	0.151216	1	1	0
GNG12	55970	broad.mit.edu	37	1	68171194	68171194	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:68171194C>G	ENST00000370982.3	-	4	358	c.159G>C	c.(157-159)ctG>ctC	p.L53L		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	53					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GTATTCCTATCAGCAAAGGGT	0.433000													7	45					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90371153	90371153	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:90371153C>T	ENST00000369393.3	-	88	14825	c.14710G>A	c.(14710-14712)Gaa>Aaa	p.E4904K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4904K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4904					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACGCACCTTCTCCTTCTTCA	0.468000													41	78					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	109996909	109996909	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109996909G>C	ENST00000545712.2	-	8	1029	c.636C>G	c.(634-636)ttC>ttG	p.F212L	MMAB_ENST00000540016.1_Missense_Mutation_p.F160L|MMAB_ENST00000266839.5_Missense_Mutation_p.F121L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	212					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGTTTAAGAACTTGGCCA	0.572000													11	25					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417466	7417466	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7417466C>T	ENST00000322644.6	+	29	6282	c.5883C>T	c.(5881-5883)atC>atT	p.I1961I		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1961					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCCCGGCTATCAGCCCGGATG	0.647000													5	40					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117881	117881	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:117881G>C	ENST00000382500.2	-	1	536	c.239C>G	c.(238-240)tCa>tGa	p.S80*		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCAAACTCTGAGGGGTCGCT	0.711000													80	107					0	0	1	0	0
COX7A2L	9167	broad.mit.edu	37	2	42580375	42580375	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:42580375G>C	ENST00000378669.1	-	3	1010	c.181C>G	c.(181-183)Cca>Gca	p.P61A	COX7A2L_ENST00000463055.1_Missense_Mutation_p.P61A|COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Missense_Mutation_p.P61A			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	61					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						TGTAGCTCTGGAACTTTGTTT	0.393000													13	44					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108741	140108741	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:140108741C>G	ENST00000371521.4	+	6	681	c.598C>G	c.(598-600)Cag>Gag	p.Q200E	NDOR1_ENST00000344894.5_Missense_Mutation_p.Q200E|NDOR1_ENST00000427047.2_Missense_Mutation_p.Q166E|NDOR1_ENST00000458322.2_Missense_Mutation_p.Q200E	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	200					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCCGGCTCTCAGGAGCCCCC	0.642000													16	44					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49319637	49319637	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:49319637C>G	ENST00000559471.1	-	7	1223	c.960G>C	c.(958-960)caG>caC	p.Q320H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Q320H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	320										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AAGGTTTTTTCTGAGTTGCCT	0.313000													34	84					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43672569	43672569	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:43672569C>G	ENST00000372492.4	+	10	2045	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	WDR65_ENST00000528956.1_Nonsense_Mutation_p.S574*	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	574										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGTTGGATCAGACCACACC	0.542000													8	35					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3845190	3845190	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:3845190C>T	ENST00000396993.4	+	3	181	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	PGAP2_ENST00000396991.2_Silent_p.I142I|PGAP2_ENST00000465307.2_Missense_Mutation_p.R85W|PGAP2_ENST00000493547.2_Silent_p.I81I|PGAP2_ENST00000463452.2_Silent_p.I81I|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396986.2_Silent_p.I138I|PGAP2_ENST00000278243.4_Silent_p.I142I|PGAP2_ENST00000300730.6_Silent_p.I138I|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000532017.1_3'UTR			Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	266					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GTTTCTGCATCGGCCTGCACT	0.647000													4	107					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58032106	58032106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:58032106G>A	ENST00000299237.2	-	2	686	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	22	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCATGGTGCTGAGGCTGCGGT	0.647000													34	59					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895744	43895744	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:43895744C>T	ENST00000562955.1	+	29	4200	c.4200C>T	c.(4198-4200)ttC>ttT	p.F1400F	SZT2_ENST00000372442.1_Silent_p.F558F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1457						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCACTACTTCTTCTATTGCC	0.532000													33	46					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43575868	43575868	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:43575868G>A	ENST00000216129.6	-	4	748	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	229					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				AGGTCCCTCAGGGGCCACAGC	0.672000													21	50					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769549	148769549	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:148769549C>T	ENST00000316286.9	-	3	329	c.57G>A	c.(55-57)atG>atA	p.M19I	ZNF786_ENST00000491431.1_Missense_Mutation_p.M105I|ZNF786_ENST00000451334.3_Missense_Mutation_p.M68I			Q8N393	ZN786_HUMAN	zinc finger protein 786	105	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCCTGAATTCATAGCCTGCT	0.453000													5	5					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066419	70066419	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:70066419C>T	ENST00000446444.1	-	6	1337	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	443					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M443I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTGATAATTTCATAATATTCT	0.358000													17	53					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115372035	115372035	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:115372035C>T	ENST00000369358.4	-	30	3724	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	NRAP_ENST00000359988.3_Silent_p.L1152L|NRAP_ENST00000360478.3_Silent_p.L1117L|NRAP_ENST00000369360.3_Silent_p.L1125L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1152						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGCTCAGCCTCAGGTCTTCTG	0.557000													26	43					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831904	49831904	+	RNA	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:49831904G>C	ENST00000527477.1	+	0	2129																											TTTATGTCTTGAATTGCATTC	0.299000													17	37					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36846669	36846669	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:36846669C>G	ENST00000279024.4	-	12	2927	c.2656G>C	c.(2656-2658)Gag>Cag	p.E886Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	886										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGAAGTTCTCAAATTCTGCG	0.577000													20	59					0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40716372	40716372	+	Missense_Mutation	SNP	C	C	G	rs141546911		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:40716372C>G	ENST00000337702.4	-	5	816	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	222							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ACTGTCTTCTCTTTCTCAGCA	0.423000													15	33					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543655	32543655	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:32543655G>C	ENST00000360538.2	-	3	984	c.868C>G	c.(868-870)Cca>Gca	p.P290A	TOPORS_ENST00000379858.1_Missense_Mutation_p.P225A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	290	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGGCAAGCTGGATTTCTACGG	0.393000													22	53					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101020	92101020	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:92101020G>A	ENST00000377067.3	+	2	541	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	57						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCCAGGACCTGATCTTCAGGT	0.413000													19	54					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898070	6898070	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:6898070C>T	ENST00000379829.2	+	1	215	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTCTTCCTCAGAAACTTGT	0.438000													46	105					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15350585	15350585	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:15350585C>T	ENST00000263377.2	-	16	3551	c.3330G>A	c.(3328-3330)gtG>gtA	p.V1110V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1110					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTCCTCCTTCACCACCACGA	0.711000			T	C15orf55	lethal midline carcinoma of young people								18	50					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29911304	29911304	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:29911304G>A	ENST00000396634.1	+	5	944	c.603G>A	c.(601-603)gaG>gaA	p.E201E	HLA-A_ENST00000376806.5_Silent_p.E201E|HLA-A_ENST00000376809.5_Silent_p.E201E|HLA-A_ENST00000376802.2_Silent_p.E201E			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	201	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGGGAAGGAGACGCTGCAGC	0.667000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			26	46					0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226355	29226355	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:29226355G>A	ENST00000581216.1	-	4	1536	c.915C>T	c.(913-915)ttC>ttT	p.F305F	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	305					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GTATAGAATCGAAGAGAAACT	0.428000													32	54					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160972244	160972244	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:160972244C>T	ENST00000274547.2	-	4	443	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GABRB2_ENST00000517901.1_Missense_Mutation_p.E13K|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000353437.6_Missense_Mutation_p.E76K|GABRB2_ENST00000520240.1_Missense_Mutation_p.E76K|GABRB2_ENST00000393959.1_Missense_Mutation_p.E76K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	76					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATATTGACTTCAGAAACCATA	0.478000													4	18					0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863474	64863474	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:64863474C>T	ENST00000313349.3	-	2	829	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	178					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGACAGAGCTCCTCGATCTCG	0.617000													20	51					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051216	96051216	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:96051216C>G	ENST00000297954.4	+	20	4291	c.4291C>G	c.(4291-4293)Ctg>Gtg	p.L1431V	WNK2_ENST00000427277.2_Missense_Mutation_p.L1006V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.L1394V|WNK2_ENST00000349097.3_Missense_Mutation_p.L1043V|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1431					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTGACTGCTCTGCCCCAAGA	0.682000													13	7					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556119	95556119	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:95556119C>T	ENST00000297591.5	-	2	190	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	KIAA1429_ENST00000421249.2_Missense_Mutation_p.E39K|KIAA1429_ENST00000437199.1_Missense_Mutation_p.E39K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	39					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTCGGACTTCATTGATATAA	0.408000													61	145					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12443080	12443080	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:12443080C>G	ENST00000358136.3	+	58	11366	c.11236C>G	c.(11236-11238)Ctt>Gtt	p.L3746V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L3721V|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3745					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAAGTTGTTCTTGGTCCTGA	0.428000													13	136					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96518855	96518855	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:96518855C>T	ENST00000283109.3	-	1	109	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	CTD-2215E18.1_ENST00000509481.1_Missense_Mutation_p.S59L|RIOK2_ENST00000508447.1_Missense_Mutation_p.R14Q	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	14							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GAAGTCATCTCGGCTCATGTA	0.562000													48	141					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43620883	43620883	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43620883C>A	ENST00000305641.5	-	1	1920	c.1805G>T	c.(1804-1806)gGa>gTa	p.G602V	LCMT2_ENST00000544735.1_Missense_Mutation_p.G181V|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	602					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCAGATCCCTCCAACCAGTAA	0.473000													13	68					0.00185496	0.00186885	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43022925	43022925	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:43022925C>T	ENST00000356231.3	-	14	2068	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	682						integral to membrane	protein binding	p.R682Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCAGCCCTCGCTGCAGCAG	0.637000													5	13					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218699846	218699846	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:218699846C>T	ENST00000171887.4	-	19	3325	c.2873G>A	c.(2872-2874)gGa>gAa	p.G958E	TNS1_ENST00000430930.1_Missense_Mutation_p.G958E|TNS1_ENST00000419504.1_Missense_Mutation_p.G958E	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	958						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGGGGAGGTTCCCTCCATCTC	0.582000													15	31					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22156492	22156492	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:22156492C>T	ENST00000374695.3	-	86	11843	c.11764G>A	c.(11764-11766)Gag>Aag	p.E3922K	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3922	EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACCTTCCTCACACCGCAAC	0.697000													5	8					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773815	145773815	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:145773815C>T	ENST00000276826.5	-	4	856	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.D219N|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.D219N			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	219					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCTCCCGATCAGCGACCTTG	0.701000													15	27					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117659368	117659368	+	Splice_Site	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:117659368C>T	ENST00000256649.4	-	3	1749		c.e3-1		TRIM45_ENST00000369461.3_Splice_Site|TRIM45_ENST00000369464.3_Splice_Site	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45							cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTGTGGAGGTCTGAAAAAGAT	0.483000													14	45					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739067	91739067	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:91739067C>G	ENST00000389857.6	-	30	6075	c.5989G>C	c.(5989-5991)Gag>Cag	p.E1997Q	CCDC88C_ENST00000331194.7_Missense_Mutation_p.E521Q	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1997					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGTCCTCCAGGGCCCGG	0.692000													6	78					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506830	44506830	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:44506830G>C	ENST00000255152.2	+	2	1842	c.1633G>C	c.(1633-1635)Gat>Cat	p.D545H	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.D539H	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	545							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGTTAGCAAAGATGGCTGTAG	0.557000													17	34					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27680779	27680779	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:27680779C>G	ENST00000260570.3	-	28	3143	c.3040G>C	c.(3040-3042)Gat>Cat	p.D1014H		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1014					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATCATGTCATCATACAACTTG	0.512000													23	49					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179663529	179663529	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:179663529G>C	ENST00000343111.6	-	12	1433	c.1135C>G	c.(1135-1137)Cag>Gag	p.Q379E	MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q379E			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	0					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGCATCTGTGCTAAGAAA	0.478000													26	52					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141763322	141763322	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:141763322C>T	ENST00000475668.2	+	36	4335	c.4281C>T	c.(4279-4281)ttC>ttT	p.F1427F	MGAM_ENST00000549489.2_Silent_p.F1427F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1427	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCAAGCTTCGTGAATGGGG	0.493000													6	11					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50204037	50204037	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:50204037G>A	ENST00000392518.4	+	5	750	c.378G>A	c.(376-378)ctG>ctA	p.L126L	CPT1C_ENST00000405931.2_Silent_p.L126L|CPT1C_ENST00000598293.1_Silent_p.L126L|CPT1C_ENST00000323446.5_Silent_p.L126L|CPT1C_ENST00000354199.5_Silent_p.L126L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	126					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACGTGGCCCTGAGGCTGCTTC	0.657000													43	135					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505826	102505826	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102505826G>A	ENST00000360184.4	+	61	11702	c.11538G>A	c.(11536-11538)ctG>ctA	p.L3846L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3846					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCGAACCTGAAGGGTGTCA	0.542000													29	51					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14288503	14288503	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:14288503C>T	ENST00000340736.6	-	3	421	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	LPHN1_ENST00000361434.3_Missense_Mutation_p.E42K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	42	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTAGCCTTCACACGCCAGC	0.677000													12	125					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46328004	46328004	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:46328004G>A	ENST00000369367.3	-	8	820	c.587C>T	c.(586-588)tCt>tTt	p.S196F	SCAF11_ENST00000419565.2_Missense_Mutation_p.S196F|SCAF11_ENST00000549162.1_Missense_Mutation_p.S4F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	196					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTGGCTAACAGAAGAAAACAT	0.299000													6	14					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44180229	44180229	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:44180229G>A	ENST00000431837.1	+	10	1152	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	IRAK4_ENST00000551736.1_Missense_Mutation_p.E406K|IRAK4_ENST00000448290.2_Missense_Mutation_p.E406K|IRAK4_ENST00000440781.2_Missense_Mutation_p.E282K	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	406	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AATTGAAGATGAAGAAAAGAC	0.269000													14	28					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48625398	48625398	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:48625398C>A	ENST00000297423.4	+	15	2536	c.2152C>A	c.(2152-2154)Cac>Aac	p.H718N	SPIDR_ENST00000517693.1_Missense_Mutation_p.H193N|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.H658N|SPIDR_ENST00000541342.1_Missense_Mutation_p.H648N	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GGCTGCCCCTCACAGCCTCTT	0.607000													36	90					1.07637e-12	1.11901e-12	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50728135	50728135	+	Silent	SNP	T	T	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50728135T>C	ENST00000449103.1	-	3	1019	c.879A>G	c.(877-879)ctA>ctG	p.L293L	PLXNB2_ENST00000359337.4_Silent_p.L293L			O15031	PLXB2_HUMAN	plexin B2	293	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGACAGCATATAGCACCCTGC	0.682000													21	49					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336902	151336902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:151336902G>C	ENST00000370314.4	-	10	1515	c.1277C>G	c.(1276-1278)tCa>tGa	p.S426*	GABRA3_ENST00000370311.1_Nonsense_Mutation_p.S426*|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Nonsense_Mutation_p.S426*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	426					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTGGGGTTGAGGAGGCACT	0.537000													69	48					0	0	1	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74564836	74564836	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74564836G>A	ENST00000225276.5	-	7	1135	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	272					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGCAGCTTGAATTTACTGG	0.557000													7	52					0	0	1	0	0
ADPRM	56985	broad.mit.edu	37	17	10608643	10608643	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:10608643C>G	ENST00000379774.4	+	2	491	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	ADPRM_ENST00000527582.2_Missense_Mutation_p.Q134E	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		TCTAGAAGATCAGATTGTACA	0.338000													24	32					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317428	1317428	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:1317428C>T	ENST00000381567.3	-	5	636	c.637G>A	c.(637-639)Gag>Aag	p.E213K	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	213						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCCGAATCTCGCCTCTCTGC	0.567000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								49	96					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76409469	76409469	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr13:76409469G>C	ENST00000357063.3	+	19	4743	c.3483G>C	c.(3481-3483)caG>caC	p.Q1161H	LMO7_ENST00000377534.3_Missense_Mutation_p.Q1161H|LMO7_ENST00000465261.2_Missense_Mutation_p.Q876H|LMO7_ENST00000526202.1_Missense_Mutation_p.Q753H|LMO7_ENST00000341547.4_Missense_Mutation_p.Q827H|LMO7_ENST00000321797.8_Missense_Mutation_p.Q876H			Q8WWI1	LMO7_HUMAN	LIM domain 7	1161						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGCCTTCAGAGTTCTGTGA	0.353000													13	32					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116497356	116497356	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:116497356G>A	ENST00000410059.1	+	9	1219	c.739G>A	c.(739-741)Gat>Aat	p.D247N	DPP10_ENST00000310323.8_Missense_Mutation_p.D240N|DPP10_ENST00000409163.1_Missense_Mutation_p.D197N|DPP10_ENST00000393147.2_Missense_Mutation_p.D251N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	247					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTGGTCACCAGATGGAGAAAG	0.468000													26	74					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408428	29408428	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:29408428C>T	ENST00000444197.2	+	1	1346	c.636C>T	c.(634-636)ctC>ctT	p.L212L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTTTGGCCTCATCCTGGGCT	0.587000													78	161					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96757999	96757999	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:96757999C>G	ENST00000359933.4	-	38	6410	c.5517G>C	c.(5515-5517)ttG>ttC	p.L1839F	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1839										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCAGACCAATCAAAATCCCAG	0.333000													30	56					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626418	50626418	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:50626418G>A	ENST00000216373.5	-	10	1857	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.S495F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	528	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTTCAGCAGACTTAGCAGC	0.328000													26	73					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703507	60703507	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:60703507G>A	ENST00000005286.4	+	11	2356	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E734K	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	734	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGCGCCGAGGGGCTGCC	0.741000													7	21					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93594843	93594843	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:93594843C>T	ENST00000370298.4	+	11	1287	c.998C>T	c.(997-999)tCt>tTt	p.S333F	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.S231F|MTF2_ENST00000545708.1_Missense_Mutation_p.S231F|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	333						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		aGGTTTATGTCTGGGAAAGAA	0.323000													21	39					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86276114	86276114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:86276114G>A	ENST00000263857.6	-	18	2905	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R843*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	843					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CATTTTCCTCGGACCTCATCA	0.493000													19	31					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737282	74737282	+	Splice_Site	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:74737282G>A	ENST00000370895.1	+	7	672	c.636_splice	c.e7-1	p.D213_splice	FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.D213_splice|TNNI3K_ENST00000326637.3_Splice_Site_p.D112_splice|TNNI3K_ENST00000370891.2_Splice_Site_p.D213_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.D213_splice			Q59H18	TNI3K_HUMAN		112						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TTCCTTACAGGATAATGCAGA	0.428000													36	100					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70348164	70348164	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:70348164C>G	ENST00000333646.6	+	23	3427	c.3228C>G	c.(3226-3228)atC>atG	p.I1076M	MED12_ENST00000374102.1_Missense_Mutation_p.I1076M|MED12_ENST00000374080.3_Missense_Mutation_p.I1076M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1076					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACATCGCAATCCTGTGTGCAG	0.493000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	37					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22175513	22175513	+	Silent	SNP	C	C	G	rs146046708		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:22175513C>G	ENST00000374695.3	-	58	7537	c.7458G>C	c.(7456-7458)tcG>tcC	p.S2486S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2486	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCGTAGCCTCGAGCCATGCA	0.647000													46	95					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249962	219249962	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:219249962C>T	ENST00000233202.6	+	4	706	c.366C>T	c.(364-366)ggC>ggT	p.G122G	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	122					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGACTTGGGCGAGGTCTGCC	0.612000													34	89					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833471	31833471	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:31833471G>A	ENST00000544672.1	-	15	1646	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	SLC44A4_ENST00000229729.6_Silent_p.L526L|SLC44A4_ENST00000375562.4_Silent_p.L484L	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	526						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ACTCACCTCTGAGCTTGTGGT	0.567000													47	117					0	0	1	0	0
GABARAP	11337	broad.mit.edu	37	17	7144691	7144691	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:7144691G>A	ENST00000302386.5	-	3	697	c.258C>T	c.(256-258)ccC>ccT	p.P86P	GABARAP_ENST00000573928.1_Silent_p.P86P|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571253.1_5'UTR	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	86	Interaction with GPHN (By similarity).				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding	p.P86P(1)		breast(1)|lung(2)	3						TGGCACTGGTGGGTGGAATGA	0.483000													141	324					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32312866	32312866	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:32312866C>T	ENST00000382142.3	-	1	249	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MTMR12_ENST00000264934.5_Missense_Mutation_p.E27K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E27K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	27						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ccccTCACCTCAGGGCGTACG	0.766000													15	26					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6975007	6975007	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6975007C>T	ENST00000389658.3	-	46	6611	c.6518G>A	c.(6517-6519)cGa>cAa	p.R2173Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2173	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCTCCCTCGCCGCATCTC	0.542000													12	23					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773268	141773268	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:141773268C>T	ENST00000389484.3	-	13	3158	c.2187G>A	c.(2185-2187)agG>agA	p.R729R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	729					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTACCTTCCTGTGAGTCC	0.358000										TSP Lung(27;0.18)			7	14					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667438	133667438	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:133667438G>C	ENST00000310926.4	-	8	1320	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	SLCO2A1_ENST00000493729.1_Silent_p.L273L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	349					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGAACTTGTTGAGGAAGGTGG	0.577000													112	164					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4345870	4345870	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:4345870G>A	ENST00000599840.1	+	3	458	c.423G>A	c.(421-423)tcG>tcA	p.S141S	MPND_ENST00000359935.4_Silent_p.S141S|MPND_ENST00000262966.8_Silent_p.S141S			Q8N594	MPND_HUMAN	MPN domain containing	141							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGAAGTCGGGCTGTGGCT	0.622000													20	65					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50292704	50292704	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:50292704C>G	ENST00000338821.5	-	10	1107	c.843G>C	c.(841-843)cgG>cgC	p.R281R	ATP9A_ENST00000311637.5_Silent_p.R145R|ATP9A_ENST00000402822.1_Silent_p.R160R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGACACTCCGGAGTTCTC	0.438000													24	29					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44056897	44056897	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:44056897G>A	ENST00000359947.4	+	9	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPRF_ENST00000372414.3_Missense_Mutation_p.E402K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E402K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E402K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	402	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E392K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGCCCAGCGAGGCAGTGCG	0.697000													9	13					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70785335	70785335	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:70785335G>C	ENST00000358731.4	+	10	1581	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	440	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACAGTTGAAGAAGAGTCTCT	0.413000													5	50					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99510111	99510111	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:99510111C>G	ENST00000393677.4	+	7	892	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L230V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L230V|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.L132V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.L198V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.L144V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L230V|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.L112V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	230					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CAGGGCATCTCTGCAGCAGAG	0.542000													20	43					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31535864	31535864	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:31535864G>C	ENST00000325366.9	+	3	368	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	81										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ATTAAGTATTGAAAATTGGAT	0.348000													8	10					0	0	1	0	0
RPS21	6227	broad.mit.edu	37	20	60963404	60963404	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:60963404G>A	ENST00000450116.2	+	4	247	c.226G>A	c.(226-228)Gat>Aat	p.D76N	RPS21_ENST00000343986.4_Missense_Mutation_p.D76N|RPS21_ENST00000370562.1_3'UTR|RPS21_ENST00000492356.2_3'UTR			P63220	RS21_HUMAN	ribosomal protein S21	76					endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCAAGGCCGATGGCATCGT	0.493000													13	32					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79770451	79770451	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:79770451G>C	ENST00000275034.4	-	5	441	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	92					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGAACACTTTGAGGAATTTCT	0.353000													23	28					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184021128	184021128	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:184021128C>G	ENST00000310118.4	+	9	1648	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	PSMD2_ENST00000435761.1_Missense_Mutation_p.Q205E|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.Q234E	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CAGTGGCTCTCAGGTGGACTC	0.507000													32	110					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133195570	133195570	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:133195570C>T	ENST00000389110.3	+	1	205	c.168C>T	c.(166-168)ttC>ttT	p.F56F	P2RX2_ENST00000350048.5_Silent_p.F56F|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Silent_p.F56F|P2RX2_ENST00000343948.4_Silent_p.F56F|P2RX2_ENST00000449132.2_Silent_p.F56F	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	56					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TGCTCTACTTCGTGTGGTgcg	0.751000													5	31					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8158400	8158400	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:8158400G>C	ENST00000314666.6	+	4	467	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	112					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCGCGCCACTGGGCTGGGGCC	0.602000													21	51					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50737553	50737553	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:50737553G>C	ENST00000403097.1	-	6	1132	c.352C>G	c.(352-354)Cag>Gag	p.Q118E	GRB10_ENST00000398812.2_Missense_Mutation_p.Q124E|GRB10_ENST00000398810.2_Missense_Mutation_p.Q66E|GRB10_ENST00000407526.1_Missense_Mutation_p.Q66E|GRB10_ENST00000401949.1_Missense_Mutation_p.Q124E|GRB10_ENST00000357271.5_Missense_Mutation_p.Q124E|GRB10_ENST00000335866.3_Missense_Mutation_p.Q66E|GRB10_ENST00000406641.1_Missense_Mutation_p.Q66E|GRB10_ENST00000402497.1_Missense_Mutation_p.Q66E|GRB10_ENST00000439599.1_Missense_Mutation_p.Q118E|GRB10_ENST00000402578.1_Missense_Mutation_p.Q66E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	124					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCTTCCTCCTGAAGGCGCCTG	0.577000									Russell-Silver syndrome				6	12					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118702	34118702	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:34118702G>A	ENST00000297161.2	+	13	1686	c.1312G>A	c.(1312-1314)Gtg>Atg	p.V438M	BMPER_ENST00000426693.1_Missense_Mutation_p.V438M	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	438	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCACCTCACCGTGCGCTGGAA	0.657000													60	97					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846617	7846617	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:7846617C>T	ENST00000328375.1	-	1	902	c.903G>A	c.(901-903)ctG>ctA	p.L301L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTCTCTCTTCAGAGCCCCCT	0.378000													17	28					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649526	150649526	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:150649526G>A	ENST00000392968.2	-	4	2376	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	KCNH2_ENST00000330883.4_Missense_Mutation_p.S175F|KCNH2_ENST00000430723.3_Missense_Mutation_p.S515F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S515F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	515					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTCAGAGCCAGAGCCGAAGAT	0.647000													9	15					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7684025	7684025	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:7684025G>C	ENST00000256861.6	-	3	242	c.164C>G	c.(163-165)tCa>tGa	p.S55*	ITIH5_ENST00000397145.2_Nonsense_Mutation_p.S55*|ITIH5_ENST00000397146.2_Nonsense_Mutation_p.S55*|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	55	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGACTTCACTGAGAATTCTGT	0.423000													16	45					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70644011	70644011	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:70644011C>G	ENST00000449580.1	+	32	4724	c.4673C>G	c.(4672-4674)tCc>tGc	p.S1558C	TAF1_ENST00000423759.1_Missense_Mutation_p.S1579C|TAF1_ENST00000373790.4_Missense_Mutation_p.S1558C|TAF1_ENST00000276072.3_Missense_Mutation_p.S1579C|TAF1_ENST00000461764.1_3'UTR			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1558	Bromo 2.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGAACATCTCCAAGCACAAG	0.393000													22	10					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596169	161596169	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:161596169G>A	ENST00000294800.3	-	4	616	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R151W|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R115W|FCGR2B_ENST00000428605.2_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	115					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACACCCACCGAGGGGCCTGG	0.557000													21	20					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351349	172351349	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:172351349C>G	ENST00000475381.1	-	5	1376	c.1143G>C	c.(1141-1143)atG>atC	p.M381I	NCEH1_ENST00000538775.1_Missense_Mutation_p.M421I|NCEH1_ENST00000273512.3_Missense_Mutation_p.M413I|NCEH1_ENST00000543711.1_Missense_Mutation_p.M248I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	381					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TAGTGAAAATCATACATCCGT	0.483000													24	95					0	0	1	0	0
EXOSC1	51013	broad.mit.edu	37	10	99205728	99205728	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:99205728C>T	ENST00000370902.3	-	1	46	c.15G>A	c.(13-15)gtG>gtA	p.V5V	EXOSC1_ENST00000485122.2_Silent_p.V5V|EXOSC1_ENST00000370886.5_Silent_p.V5V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370885.4_Silent_p.V5V	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	5					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TGCAGTATCTCACAGGTGGCG	0.557000											OREG0020413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	46					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22475925	22475925	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:22475925G>A	ENST00000308511.4	+	17	2386	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	KIAA1967_ENST00000389279.3_Missense_Mutation_p.D713N|KIAA1967_ENST00000520861.1_Missense_Mutation_p.D388N			Q8N163	K1967_HUMAN		713					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGTGTTCTTTGATGCCAACTG	0.512000													54	99					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122447263	122447263	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:122447263G>A	ENST00000474629.2	+	17	5491	c.5225G>A	c.(5224-5226)cGa>cAa	p.R1742Q		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1742	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TATTATGTGCGAGTACTTACT	0.398000													8	150					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41220510	41220510	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:41220510G>A	ENST00000324464.3	-	2	329	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	ADCK4_ENST00000450541.1_Missense_Mutation_p.R10W|ADCK4_ENST00000243583.6_Missense_Mutation_p.R10W	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	10						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCGGTCCCCCGAAGTAGGCCC	0.652000													22	38					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45718438	45718438	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:45718438G>A	ENST00000273317.4	+	8	1939	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	640	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTCAATGATGAAGATGGCCA	0.557000													58	111					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124114062	124114062	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:124114062G>C	ENST00000360013.3	+	12	2164	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	KALRN_ENST00000460856.1_Silent_p.L679L|KALRN_ENST00000240874.3_Silent_p.L679L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	679					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCAGGAACTGATCAAGCAGT	0.522000													4	65					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614248	3614248	+	RNA	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:3614248G>A	ENST00000301749.7	-	0	1095				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGTTGGAGAAGTCCAGAG	0.622000													9	26					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922916	43922916	+	Missense_Mutation	SNP	G	G	A	rs144845296		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:43922916G>A	ENST00000329196.5	+	1	661	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	215						integral to membrane	aspartic-type endopeptidase activity										CGGCTACAGCGGCGCCGTGCC	0.617000													34	57					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427042	97427042	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:97427042C>G	ENST00000377075.2	+	1	404	c.306C>G	c.(304-306)ctC>ctG	p.L102L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	102					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCGAGACCCTCCACAAGTCCA	0.637000													15	44					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12445358	12445358	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:12445358G>A	ENST00000358136.3	+	59	11540	c.11410G>A	c.(11410-11412)Gaa>Aaa	p.E3804K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3779K|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3803					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCGTTCATATGAAGTGGATGA	0.373000													19	27					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591518	50591518	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:50591518G>A	ENST00000262794.5	+	22	3020	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	MOV10L1_ENST00000354853.2_Silent_p.L22L|MOV10L1_ENST00000395852.1_Silent_p.L106L|MOV10L1_ENST00000395843.1_Silent_p.L22L|MOV10L1_ENST00000395858.3_Silent_p.L979L|MOV10L1_ENST00000545383.1_Silent_p.L979L|MOV10L1_ENST00000540615.1_Silent_p.L959L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	979					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGCCCTGCTGATGCTGCCCT	0.592000													41	82					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53675335	53675335	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:53675335G>T	ENST00000257934.4	+	13	2635	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q848H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	848					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATCTCGATCAGACTACTGACA	0.483000													35	70					2.1956e-27	2.30935e-27	1	1	0
GBP1	2633	broad.mit.edu	37	1	89523838	89523838	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:89523838G>C	ENST00000370473.4	-	6	930	c.711C>G	c.(709-711)gtC>gtG	p.V237V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	237					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCCGATCAAAGACAAAGCATT	0.423000													88	187					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091809	9091809	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9091809C>T	ENST00000397910.4	-	1	209	c.6G>A	c.(4-6)ctG>ctA	p.L2L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGGTTTCAGCATGGACA	0.542000													8	106					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233091354	233091354	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:233091354C>T	ENST00000366627.4	+	2	157	c.86C>T	c.(85-87)tCt>tTt	p.S29F	NTPCR_ENST00000366628.4_Missense_Mutation_p.S29F			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	29							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						TTAAAATCCTCTGGTGTGCCT	0.403000													26	17					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049448	175049448	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:175049448G>C	ENST00000239462.4	+	4	1047	c.934G>C	c.(934-936)Gag>Cag	p.E312Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	312	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTGCCCAAGGAGCAGCACAG	0.552000													28	54					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96640826	96640826	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:96640826C>G	ENST00000228741.3	+	3	642	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	106					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GGAGAGCCTTCTGCTGCAGGA	0.597000													16	21					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510743	26510743	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:26510743C>T	ENST00000531191.1	+	10	1198	c.191C>T	c.(190-192)tCa>tTa	p.S64L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.S322L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S329L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	329	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGTCTTCAAACCCCAGT	0.622000													49	124					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113099899	113099899	+	Missense_Mutation	SNP	A	A	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113099899A>C	ENST00000393845.2	-	16	1965	c.1899T>G	c.(1897-1899)agT>agG	p.S633R	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.S633R	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	633										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTAGTAAAGTACTTTCAGGCT	0.269000													23	18					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230473020	230473020	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:230473020C>T	ENST00000321327.2	-	6	998	c.999G>A	c.(997-999)ctG>ctA	p.L333L	PGBD5_ENST00000525115.1_Silent_p.L234L|PGBD5_ENST00000391860.1_Silent_p.L188L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	234						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CACCTTCCTTCAGGTGGACAT	0.572000													18	15					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061987	13061987	+	Silent	SNP	C	C	T	rs143081065	by1000genomes	TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:13061987C>T	ENST00000014914.5	+	2	1694	c.804C>T	c.(802-804)ctC>ctT	p.L268L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	268						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTTGGCTGCTCACAAAGCAAC	0.512000													22	35					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127503692	127503692	+	Missense_Mutation	SNP	T	T	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:127503692T>A	ENST00000368778.3	-	4	348	c.155A>T	c.(154-156)cAt>cTt	p.H52L	UROS_ENST00000368797.4_Missense_Mutation_p.H52L|UROS_ENST00000368774.1_Missense_Mutation_p.H52L|UROS_ENST00000368786.1_Missense_Mutation_p.H52L			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	52					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATCTTCAGGATGAGAAAGCTG	0.428000													6	22					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961355	1961355	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:1961355C>T	ENST00000217305.2	-	4	604	c.379G>A	c.(379-381)Gag>Aag	p.E127K	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.E127K|PDYN_ENST00000539905.1_Missense_Mutation_p.E127K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	127					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTTCTCCTCCAGGCTCTTG	0.547000													30	77					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989937	64989937	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:64989937G>C	ENST00000358738.3	+	2	2106	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	ZBTB1_ENST00000394712.2_Missense_Mutation_p.R572T|ZBTB1_ENST00000554015.1_Missense_Mutation_p.R572T|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GAAAATGAAAGAGATCACAGA	0.368000													34	90					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7529459	7529459	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:7529459G>A	ENST00000593531.1	+	16	2096	c.2096G>A	c.(2095-2097)aGa>aAa	p.R699K	ARHGEF18_ENST00000319670.9_Silent_p.K583K|ARHGEF18_ENST00000359920.6_Silent_p.K741K																							GCAGTTTCAAGAAGAAAGTCA	0.632000													23	85					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62340463	62340463	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:62340463G>A	ENST00000328969.5	+	2	658	c.531G>A	c.(529-531)ctG>ctA	p.L177L	ZGPAT_ENST00000369967.3_Silent_p.L177L|ZGPAT_ENST00000357119.4_Silent_p.L177L|ZGPAT_ENST00000448100.1_Silent_p.L177L|ZGPAT_ENST00000355969.6_Silent_p.L177L|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	177					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ACAAGTCTCTGAAGCCGTGCC	0.572000													40	90					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67808853	67808853	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:67808853G>C	ENST00000265686.3	+	2	223	c.115G>C	c.(115-117)Gac>Cac	p.D39H		NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	39					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGAGTTCAGAGACGTGAGTTG	0.692000													24	62					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116251568	116251568	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:116251568C>G	ENST00000369252.4	-	7	1085	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ABLIM1_ENST00000369266.3_Missense_Mutation_p.E6Q|ABLIM1_ENST00000369253.2_Missense_Mutation_p.E6Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.E322Q|ABLIM1_ENST00000392952.3_Missense_Mutation_p.E6Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E262Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	322	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACATTTCCTCTCCTTCTGTG	0.453000													26	55					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944533	4944533	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:4944533C>T	ENST00000345988.2	-	12	1418	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	PPL_ENST00000590782.2_Silent_p.L441L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	443					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCGGAGCAATCAGCTTGTTCC	0.637000													30	46					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220936311	220936311	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:220936311G>A	ENST00000366913.3	+	4	867	c.669G>A	c.(667-669)ttG>ttA	p.L223L	MARC2_ENST00000359316.2_Silent_p.L223L	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	223	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGGTAGATTTGAATACCAGGA	0.502000													43	46					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48154040	48154040	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:48154040G>A	ENST00000320031.8	+	14	2247	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Silent_p.L639L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	639					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCAGAAGCTGAGCAGGTGGC	0.657000													12	37					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116227957	116227957	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:116227957C>T	ENST00000355485.2	+	7	1394	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	VANGL1_ENST00000369510.3_Missense_Mutation_p.L373F|VANGL1_ENST00000310260.3_Missense_Mutation_p.L375F|VANGL1_ENST00000369509.1_Missense_Mutation_p.L375F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	375					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATTCAGCGTCTCCAGGCTGA	0.582000													19	27					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49208922	49208922	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:49208922G>T	ENST00000327979.2	-	19	2935	c.2524C>A	c.(2524-2526)Cgc>Agc	p.R842S	FAM65C_ENST00000045083.2_Missense_Mutation_p.R842S|FAM65C_ENST00000535356.1_Missense_Mutation_p.R846S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	842										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCCAGGCGAGCGCTGGCC	0.652000													22	45					2.70639e-06	2.75244e-06	1	1	0
CYFIP1	23191	broad.mit.edu	37	15	22933613	22933613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:22933613C>T	ENST00000313077.7	+	7	747	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.Q208*	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	208					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGGAATCGCAGAATCTGTC	0.502000													12	33					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918684	106918684	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:106918684C>T	ENST00000369701.3	+	11	1891	c.1664C>T	c.(1663-1665)tCt>tTt	p.S555F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	555						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGCAACTCTCTGAAAATCCA	0.453000													9	41					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104205238	104205238	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:104205238C>T	ENST00000202556.9	-	13	2997	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.Q324Q	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	905					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGATGATCCTCTGCACCAGAT	0.642000													56	128					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113667698	113667698	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:113667698G>A	ENST00000330212.3	+	2	348	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E11K	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	17						integral to membrane	acyltransferase activity|zinc ion binding	p.E17*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GAAAACCGAAGAACCTGAATT	0.478000													37	113					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978307	6978307	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:6978307C>T	ENST00000389658.3	-	43	6171	c.6078G>A	c.(6076-6078)ctG>ctA	p.L2026L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2026	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACGTCCCTCAGCGTGCTCA	0.537000													19	51					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572551	47572551	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:47572551G>C	ENST00000253048.5	-	14	2233	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	732							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTCAGGGAAGAGGTGCTCCC	0.682000													9	25					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141205979	141205979	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:141205979G>C	ENST00000286364.3	+	1	89	c.54G>C	c.(52-54)gcG>gcC	p.A18A	RASA2_ENST00000452898.1_Silent_p.A18A			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	18	Ala-rich.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						cgccagcggcgAGTGCGACTG	0.746000													7	5					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131487356	131487356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:131487356C>T	ENST00000376682.4	+	1	313	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	GPR133_ENST00000535015.1_Intron|GPR133_ENST00000261654.5_Intron			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGGGCGATCAGCCCCTCCT	0.642000													8	26					0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856022	93856022	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:93856022C>T	ENST00000513200.3	-	4	973	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	KIAA0825_ENST00000427991.2_Missense_Mutation_p.E301K|KIAA0825_ENST00000329378.7_Missense_Mutation_p.E301K|KIAA0825_ENST00000312498.7_Missense_Mutation_p.E301K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	301										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACAGCATTTTCTCTGAACTGC	0.363000													14	39					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262790	248262790	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:248262790C>T	ENST00000366478.2	+	3	450	c.113C>T	c.(112-114)tCg>tTg	p.S38L	OR2L13_ENST00000358120.2_Missense_Mutation_p.S38L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTTCTGGCCTCGGTGGGTAAC	0.463000													15	156					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968316	87968316	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:87968316C>G	ENST00000307808.6	+	3	1028	c.608C>G	c.(607-609)tCt>tGt	p.S203C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S210C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	203						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCTTAATCTCTTTGCCTTCC	0.527000													50	128					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591780	86591780	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:86591780G>A	ENST00000370571.2	-	3	605	c.239C>T	c.(238-240)tCa>tTa	p.S80L	COL24A1_ENST00000436319.1_Missense_Mutation_p.S80L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	80	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATGACTCCTGATTCTGTTAA	0.438000													18	48					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616129	4616129	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:4616129C>T	ENST00000450052.2	+	2	933	c.933C>T	c.(931-933)atC>atT	p.I311I	OR52I1_ENST00000530443.2_Silent_p.I287I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACGTGATCATCCCAGCCA	0.498000													52	110					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150858	128150858	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:128150858G>A	ENST00000368250.1	-	4	733	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	THEMIS_ENST00000368248.2_Missense_Mutation_p.H158Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H158Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.H123Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	158	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGAGTTTGATGATTCCTTGCT	0.388000													32	59					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179085838	179085838	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:179085838G>A	ENST00000471841.1	+	9	1048	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MFN1_ENST00000263969.5_Missense_Mutation_p.E308K|MFN1_ENST00000280653.7_Missense_Mutation_p.E308K	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	308					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGCACTTGCTGAAGGATTTCA	0.323000													3	22					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306676	16306676	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:16306676C>T	ENST00000244769.4	-	9	3268	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E778K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	778	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTGCGGCTCTCTGGCGCCGAC	0.532000													24	74					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40750320	40750320	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:40750320C>G	ENST00000216194.7	+	4	527	c.471C>G	c.(469-471)ttC>ttG	p.F157L	ADSL_ENST00000342312.6_Missense_Mutation_p.F157L|ADSL_ENST00000454266.2_Missense_Mutation_p.F171L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	157					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CATTAGGTTTCACACATTTCC	0.423000													64	132					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440755	99440755	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:99440755C>T	ENST00000287042.4	+	2	898	c.548C>T	c.(547-549)tCa>tTa	p.S183L	KCNS2_ENST00000521839.1_Missense_Mutation_p.S183L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	183						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCGGCTACTCAGTGCTGAGC	0.592000													5	64					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32295530	32295530	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:32295530C>G	ENST00000409299.3	-	4	713	c.621G>C	c.(619-621)aaG>aaC	p.K207N	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	207						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGGGACGGCTCTTGTTATAGA	0.537000													30	58					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551143	102551143	+	Missense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:102551143C>A	ENST00000334701.7	-	6	1503	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D286Y|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D107Y	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	286					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTCTTGATCGATGTActtt	0.393000													22	33					1.50039e-11	1.55532e-11	1	1	0
GLUD1	2746	broad.mit.edu	37	10	88819941	88819941	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:88819941C>T	ENST00000277865.4	-	9	1351	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	GLUD1_ENST00000537649.1_Missense_Mutation_p.E252K|GLUD1_ENST00000544149.1_Missense_Mutation_p.E286K	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	419					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATGTTTCTCTCCAGGAAGATC	0.398000													34	63					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	662243	662243	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:662243G>C	ENST00000323274.10	+	3	516	c.377G>C	c.(376-378)aGa>aCa	p.R126T	TYMS_ENST00000323224.7_Missense_Mutation_p.R126T|TYMS_ENST00000323250.5_Intron	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	126					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	TTCTCCACCAGAGAAGAAGGG	0.493000													144	317					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102252183	102252183	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:102252183G>C	ENST00000335968.3	-	5	928	c.712C>G	c.(712-714)Cac>Gac	p.H238D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	238					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAAGAATGTGAGCACTGGAG	0.443000													9	20					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152318760	152318760	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:152318760G>C	ENST00000243326.4	+	27	3715	c.3232G>C	c.(3232-3234)Gat>Cat	p.D1078H	RIF1_ENST00000428287.2_Missense_Mutation_p.D1078H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1078H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1078H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1078H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1078					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTCAGGTGTGATATTCCTGC	0.358000													9	17					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4712432	4712432	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:4712432G>A	ENST00000354582.6	+	20	2376	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	ITPR1_ENST00000357086.4_Missense_Mutation_p.E676K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E676K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E661K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.E661K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E661K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	676					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTCGTTTTGAATTTGAAGG	0.418000													3	7					0	0	1	0	0
GUCD1	83606	broad.mit.edu	37	22	24939877	24939877	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:24939877G>A	ENST00000435822.1	-	5	885	c.561C>T	c.(559-561)ttC>ttT	p.F187F	GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000407471.3_Silent_p.F187F|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000404664.3_Silent_p.F243F|GUCD1_ENST00000447813.2_Intron	NM_031444.2	NP_113632.2			guanylyl cyclase domain containing 1																		GCAGCACGATGAAGTGGCCCT	0.617000													14	21					0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21818161	21818161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:21818161C>T	ENST00000380172.4	+	4	513	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	MTAP_ENST00000460874.2_Nonsense_Mutation_p.Q120*|MTAP_ENST00000580900.1_Nonsense_Mutation_p.Q103*|RP11-145E5.5_ENST00000404796.2_Nonsense_Mutation_p.Q103*|MTAP_ENST00000427788.2_3'UTR	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	103					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GGAGGAGATTCAGCCCGGCGA	0.453000													16	46					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44116447	44116447	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:44116447C>T	ENST00000262419.6	-	9	2808	c.2338G>A	c.(2338-2340)Gac>Aac	p.D780N	KANSL1_ENST00000574590.1_Missense_Mutation_p.D780N|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.D780N|KANSL1_ENST00000432791.1_Missense_Mutation_p.D780N|KANSL1_ENST00000393476.3_Intron	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	780						MLL1 complex	protein binding										TGGTTTGGGTCATGCACGGGT	0.582000													31	98					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192517200	192517200	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:192517200G>A	ENST00000392452.2	-	2	771	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	151										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TCAAAGAGCCGAAGGCTCAGC	0.512000													36	76					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267337	198267337	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:198267337G>A	ENST00000335508.5	-	14	2111	c.2020C>T	c.(2020-2022)Ctt>Ttt	p.L674F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	674					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGCCCATAAGAATAGCTATC	0.363000			Mis		myelodysplastic syndrome								13	35					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944441	50944441	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:50944441C>G	ENST00000374103.4	-	21	2801	c.2716G>C	c.(2716-2718)Gac>Cac	p.D906H	OGDHL_ENST00000419399.1_Missense_Mutation_p.D849H|OGDHL_ENST00000432695.1_Missense_Mutation_p.D697H|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	906					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCCTCCAGGTCCTGGCTGCTC	0.627000													39	89					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57081464	57081464	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:57081464G>A	ENST00000436936.1	+	23	3571	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	NLRC5_ENST00000308149.7_Missense_Mutation_p.E1116K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E1116K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1116K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1116					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCCTCAGTGAGTGTCCTCT	0.627000													5	13					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92940524	92940524	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:92940524C>G	ENST00000544910.1	+	21	1925	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V	CCDC132_ENST00000535481.1_Missense_Mutation_p.L319V|CCDC132_ENST00000541136.1_Missense_Mutation_p.L410V|CCDC132_ENST00000305866.5_Missense_Mutation_p.L599V|CCDC132_ENST00000317751.6_Missense_Mutation_p.L330V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	599										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGATTACAGTCTAAATAAAGT	0.308000													39	112					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56681004	56681004	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:56681004G>A	ENST00000431842.2	-	7	1497	c.573C>T	c.(571-573)ttC>ttT	p.F191F	FAM208A_ENST00000355628.5_Silent_p.F587F|FAM208A_ENST00000493960.2_Silent_p.F587F	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	587										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTGAGTATAAGAATTTTTTAT	0.308000													6	22					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561029	154561029	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:154561029G>A	ENST00000368474.4	-	10	3082	c.2883C>T	c.(2881-2883)atC>atT	p.I961I	ADAR_ENST00000368471.3_Silent_p.I666I|ADAR_ENST00000292205.5_Silent_p.I1004I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	961	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTACAGACCTGATATACAGAT	0.453000													62	68					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30651843	30651843	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:30651843C>G	ENST00000389266.3	+	8	1254	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	338					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCCCCTCGATCTGGACTGATC	0.398000													11	36					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29559770	29559770	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:29559770G>A	ENST00000358273.4	+	26	3750	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	NF1_ENST00000356175.3_Missense_Mutation_p.E1123K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1123					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.?(4)	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)		AGTTGAAGATGAAAGTGCGCA	0.433000			"""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)			28	42					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891241	29891241	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:29891241G>A	ENST00000400549.1	-	2	82	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	28					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCATTGTGGGATCTGAACAG	0.468000													11	105					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18185157	18185157	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:18185157G>A	ENST00000493680.1	+	6	770	c.605G>A	c.(604-606)tGa>tAa	p.*202*	BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000317582.5_Intron|BCL2L13_ENST00000399782.1_Silent_p.*202*|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000337612.5_Intron			Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	0					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GGCTGGGTATGAGCTGttata	0.433000													6	17					0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109740402	109740402	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:109740402G>A	ENST00000521072.2	-	6	1256	c.676C>T	c.(676-678)Cca>Tca	p.P226S	PPIL6_ENST00000440797.2_Missense_Mutation_p.P226S|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.P194S	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	226	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAAATGTTGGACCATAAATC	0.289000													13	34					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329793	33329793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:33329793G>A	ENST00000374796.2	-	12	6837	c.4267C>T	c.(4267-4269)Cag>Tag	p.Q1423*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1423*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1423					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCACTGTCCTGAGGCACATTC	0.463000													30	63					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43230280	43230280	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:43230280C>T	ENST00000263245.5	-	5	664	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E105K|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	149					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						AAAAAATCTTCCTCCTTTGGT	0.413000													48	136					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494617	111494617	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:111494617G>C	ENST00000369763.4	-	2	1279	c.889C>G	c.(889-891)Cta>Gta	p.L297V	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAAGGCTGTAGATTATCTTGG	0.353000													25	54					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109539779	109539779	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:109539779C>G	ENST00000336865.2	+	3	690	c.481C>G	c.(481-483)Caa>Gaa	p.Q161E	UNG_ENST00000242576.2_Missense_Mutation_p.Q170E	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	170					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTTTAGTGTTCAAAGGCCTGT	0.493000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				14	33					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176983994	176983994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:176983994C>A	ENST00000367654.2	-	8	1493	c.1480G>T	c.(1480-1482)Gaa>Taa	p.E494*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E486*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E486*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E486*			O14525	ASTN1_HUMAN	astrotactin 1	494	EGF-like 1.				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						ATGTAGCCTTCATAGCAGAGG	0.438000													7	350					0.00198382	0.00199681	1	1	0
STK32B	55351	broad.mit.edu	37	4	5461941	5461941	+	Missense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:5461941G>T	ENST00000282908.5	+	9	1317	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	STK32B_ENST00000512636.1_Missense_Mutation_p.G222C|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.G252C	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	299							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTGATGCCCGGCTTTGTGCC	0.587000											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	55					3.86903e-22	4.04968e-22	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228131711	228131711	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:228131711G>A	ENST00000396578.3	+	23	1573	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	471	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)		CATTGCAGGAGAACCAGGCCT	0.433000													8	23					0	0	1	0	0
TRAV22	28661	broad.mit.edu	37	14	22539260	22539260	+	RNA	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:22539260G>A	ENST00000390450.3	+	0	253																											CCAATTCCACGCTGCGGTGCA	0.473000													19	38					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18177447	18177447	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:18177447G>C	ENST00000600835.1	-	13	1691	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	IL12RB1_ENST00000430026.2_Missense_Mutation_p.S463C|IL12RB1_ENST00000593993.1_Missense_Mutation_p.S463C			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	463	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGTCCACAGACACAGAGTC	0.552000													8	165					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816249	29816249	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:29816249G>A	ENST00000561482.1	+	12	2225	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	KIF22_ENST00000160827.4_Missense_Mutation_p.E598K|KIF22_ENST00000569382.2_Missense_Mutation_p.E544K|KIF22_ENST00000400751.5_Missense_Mutation_p.E530K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	598					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCTGCTGAACGAAGGCTCAGC	0.612000													16	16					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35715160	35715160	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:35715160C>G	ENST00000314888.9	-	21	3003	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E884Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	884					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCTCCTCACTGTCAGGG	0.602000													22	39					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49272689	49272689	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:49272689C>T	ENST00000586178.1	-	13	1601	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Missense_Mutation_p.D420N	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	420					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TCTGAGCCATCGATCCCAATC	0.388000													20	51					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169028395	169028395	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:169028395G>A	ENST00000265295.4	+	11	1715	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.R479Q(1)									GAAGTTTATCGATTACCGCCT	0.448000													30	54					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67181702	67181702	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:67181702C>T	ENST00000269081.4	-	21	3322	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	805					transport	integral to membrane	ATP binding|ATPase activity	p.E805*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTGAAAACTCCCAACAATGA	0.373000													18	34					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410406	159410406	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:159410406G>A	ENST00000423932.3	+	1	895	c.858G>A	c.(856-858)gtG>gtA	p.V286V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	286					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGATCTCGGTGACCTACACTG	0.512000													41	141					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501390	6501390	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:6501390C>G	ENST00000264071.2	-	3	556	c.185G>C	c.(184-186)aGa>aCa	p.R62T	TUBB4A_ENST00000601152.1_Missense_Mutation_p.E37Q|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R62T|TUBB4A_ENST00000596926.1_Missense_Mutation_p.R62T|TUBB4A_ENST00000598006.1_Missense_Mutation_p.E48Q			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	62					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CAGCACCGCTCTGGGGACATA	0.607000													8	24					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578135	9578135	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:9578135G>C	ENST00000301480.4	-	10	1701	c.1488C>G	c.(1486-1488)gtC>gtG	p.V496V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGAAACAAAGACTTTCCCAC	0.413000													14	572					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99699595	99699595	+	Missense_Mutation	SNP	A	A	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:99699595A>C	ENST00000354649.3	+	5	1947	c.1232A>C	c.(1231-1233)gAg>gCg	p.E411A	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.E411A	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGCAAAGTGGAGCAGCCGCAG	0.592000													38	71					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30863240	30863240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:30863240C>T	ENST00000324771.8	+	14	2121	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	DDR1_ENST00000376570.4_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000452441.1_Nonsense_Mutation_p.R525*|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000513240.1_Nonsense_Mutation_p.R525*|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376568.3_Nonsense_Mutation_p.R525*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.R525*|DDR1_ENST00000361741.4_Silent_p.L228L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	525	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGTCCCCCTCGAGGCCCGGG	0.677000													93	213					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919884	8919884	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:8919884G>C	ENST00000256707.3	-	18	2471	c.2290C>G	c.(2290-2292)Cag>Gag	p.Q764E	KIDINS220_ENST00000418530.1_Missense_Mutation_p.Q722E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.Q765E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Q764E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Q764E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	764	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGATTCTGAGTGAAGCTG	0.458000													14	35					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105258	65105258	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:65105258G>A	ENST00000358691.5	-	29	4629	c.4463C>T	c.(4462-4464)tCg>tTg	p.S1488L	HELZ_ENST00000580168.1_Missense_Mutation_p.S1489L	NM_014877.3	NP_055692.2			helicase with zinc finger									p.S1488L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTAATCCCGAGGGGTTCTC	0.448000													22	45					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91622237	91622237	+	Silent	SNP	A	A	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:91622237A>G	ENST00000359028.2	+	6	705	c.480A>G	c.(478-480)caA>caG	p.Q160Q	AKAP9_ENST00000394564.1_Silent_p.Q148Q|AKAP9_ENST00000358100.2_Silent_p.Q160Q|AKAP9_ENST00000356239.3_Silent_p.Q148Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	160					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTCTGAACAAGGAGCACAAG	0.388000			T	BRAF	papillary thyroid								23	27					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64404585	64404585	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:64404585G>C	ENST00000262043.3	+	6	2951	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E871Q			Q92576	PHF3_HUMAN	PHD finger protein 3	871					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCCTCAGAAGAAAAAAGTGA	0.363000													49	81					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919576	142919576	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:142919576G>C	ENST00000408947.3	+	1	447	c.405G>C	c.(403-405)aaG>aaC	p.K135N		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	135					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCCTGATGAAGAGGAAAATCA	0.423000													44	39					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583931	7583931	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:7583931G>C	ENST00000379802.3	+	24	6777	c.6436G>C	c.(6436-6438)Gat>Cat	p.D2146H	DSP_ENST00000418664.2_Missense_Mutation_p.D1547H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2146	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTTGCCAAAAGATGTCGCCTT	0.468000													26	55					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353058	121353058	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:121353058G>A	ENST00000314583.3	-	10	990	c.899C>T	c.(898-900)tCa>tTa	p.S300L	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.S263L	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	300					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCTCACCTCTGAGGAGATTTT	0.567000													35	112					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238427235	238427235	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr2:238427235G>A	ENST00000264605.3	+	5	793	c.499G>A	c.(499-501)Gag>Aag	p.E167K	MLPH_ENST00000338530.4_Missense_Mutation_p.E167K|MLPH_ENST00000410032.1_Missense_Mutation_p.E167K|MLPH_ENST00000445024.2_Missense_Mutation_p.E167K|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.E167K	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	167							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CCAGACAGATGAGGATGGAGA	0.567000													11	28					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134130685	134130685	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:134130685C>G	ENST00000452510.2	+	14	1930	c.1772C>G	c.(1771-1773)tCa>tGa	p.S591*	DDX46_ENST00000354283.4_Nonsense_Mutation_p.S591*	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	591					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGTTTGCTCAGATGTGGAG	0.443000													49	102					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100284283	100284283	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:100284283G>C	ENST00000275732.5	-	7	1892	c.683C>G	c.(682-684)tCc>tGc	p.S228C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGGCTGGCGGAGCGCCAGCG	0.692000													32	102					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101668784	101668784	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:101668784G>C	ENST00000342239.3	-	5	2471	c.2380C>G	c.(2380-2382)Cag>Gag	p.Q794E	DNMBP_ENST00000324109.4_Missense_Mutation_p.Q794E|DNMBP_ENST00000543621.1_Missense_Mutation_p.Q40E			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	794	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTTTCTGTCTGAAGAAGTTCT	0.507000													12	51					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51641680	51641680	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:51641680G>A	ENST00000375695.2	+	11	2106	c.1953G>A	c.(1951-1953)gtG>gtA	p.V651V	MAGED1_ENST00000375722.1_Silent_p.V595V|MAGED1_ENST00000375772.3_Silent_p.V595V|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.V595V	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	595	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTTCAGGGTGAGACATCCCC	0.443000										Multiple Myeloma(10;0.10)			9	2					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824951	74824951	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:74824951G>A	ENST00000256362.4	+	2	1706	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	489					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCCACAGGTGAGGACCCTCC	0.662000													24	50					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027443	41027443	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:41027443G>A	ENST00000324545.7	+	18	3241	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	USP9X_ENST00000378308.2_Missense_Mutation_p.E870K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	870					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATTATCATGAGGAAAGAAC	0.333000													19	6					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537722	1537722	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr16:1537722C>T	ENST00000447419.2	-	2	416	c.391G>A	c.(391-393)Gag>Aag	p.E131K	PTX4_ENST00000293922.1_Missense_Mutation_p.E126K|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	131						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGGCTCCTCTCGCCCAGGGTG	0.701000													30	38					0	0	1	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628642	42628642	+	Splice_Site	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:42628642C>G	ENST00000357001.2	-	3	289		c.e3-1			NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)						signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGATTTCCTCTGCACAACAG	0.637000													19	38					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650039	39650039	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr14:39650039G>A	ENST00000216832.4	+	9	1193	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	376	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aagggaaagtgagaagcagca	0.428000													13	23					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49982392	49982392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:49982392C>T	ENST00000544141.1	-	6	2708	c.2109G>A	c.(2107-2109)tgG>tgA	p.W703*	FAM186B_ENST00000257894.2_Nonsense_Mutation_p.W793*|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	793						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTGAACGTTCCACTCCAGCT	0.567000													4	117					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101110204	101110204	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr15:101110204C>G	ENST00000314742.8	-	7	1735	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	505										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						ACTGTGGAATCAAATCCTATA	0.318000													6	17					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119273873	119273873	+	Translation_Start_Site	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:119273873C>T	ENST00000296498.3	-	1	285	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	1						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGGCGAGCGTCATGGTGCCAG	0.672000													16	30					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472342	231472342	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:231472342C>G	ENST00000366645.1	-	1	1256	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	EXOC8_ENST00000360394.2_Missense_Mutation_p.E384Q			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	384					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ACTCGCTCCTCCACTTTGGCC	0.517000													49	60					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877083	151877083	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr7:151877083C>T	ENST00000355193.2	-	37	7496	c.7278G>A	c.(7276-7278)gaG>gaA	p.E2426E	KMT2C_ENST00000262189.6_Silent_p.E2426E					lysine (K)-specific methyltransferase 2C																		GGTTAACATTCTCTGGTTGCC	0.537000													4	134					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99053108	99053108	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:99053108C>T	ENST00000357310.1	+	5	1274	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000551964.1_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	233	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTGATGCTTCGCAAACACCC	0.453000													36	52					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74902123	74902123	+	Silent	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:74902123G>C	ENST00000569840.2	+	8	1453	c.879G>C	c.(877-879)ctG>ctC	p.L293L	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.L293L|MGAT5B_ENST00000428789.2_Silent_p.L304L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	293						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGGCTTCCTGACGGAGGAGT	0.677000													12	56					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662202	138662202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:138662202G>T	ENST00000298480.5	+	17	1752	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*	KCNT1_ENST00000263604.3_Nonsense_Mutation_p.E541*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.E560*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.E541*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.E527*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.E521*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.E515*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.E541*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	560						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCCGGCAACGAGGTGTACCA	0.657000													18	70					2.35188e-11	2.43563e-11	1	1	0
MGME1	92667	broad.mit.edu	37	20	17956539	17956539	+	Missense_Mutation	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:17956539G>A	ENST00000377710.5	+	3	1012	c.724G>A	c.(724-726)Gag>Aag	p.E242K	MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000377709.1_Missense_Mutation_p.E162K	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		CTGTGTGGCTGAGTATCAGTA	0.443000													15	45					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799720	52799720	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:52799720C>T	ENST00000257974.2	-	1	419	c.342G>A	c.(340-342)caG>caA	p.Q114Q		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	114	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCTTTACCCTCTGCACAGTCG	0.577000													73	168					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65486586	65486586	+	Silent	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr11:65486586C>G	ENST00000341318.4	+	13	1809	c.1575C>G	c.(1573-1575)ctC>ctG	p.L525L	KAT5_ENST00000530446.1_Silent_p.L473L|KAT5_ENST00000534650.1_Silent_p.L281L|KAT5_ENST00000377046.3_Silent_p.L492L|KAT5_ENST00000352980.4_Silent_p.L440L|RNASEH2C_ENST00000308418.4_3'UTR	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	492					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCAAGCGGCTCCTGCGGATCG	0.607000													16	34					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	357515	357515	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:357515C>T	ENST00000400256.3	-	3	273	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	22				Q -> H (in Ref. 1; BAB39148).	carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTGTTCCTTCCTGAATACCTG	0.303000													13	31					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31856205	31856205	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr6:31856205C>G	ENST00000395728.3	-	11	1614	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	EHMT2_ENST00000375530.4_Missense_Mutation_p.E448Q|EHMT2_ENST00000375537.4_Missense_Mutation_p.E482Q|EHMT2_ENST00000375528.4_Missense_Mutation_p.E505Q|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	482					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGTGGGTCTCACAGAGCACC	0.652000													6	13					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097473	167097473	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:167097473G>A	ENST00000361200.2	+	6	3271	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	DUSP27_ENST00000271385.5_Silent_p.E1035E|DUSP27_ENST00000443333.1_Silent_p.E1035E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1035	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCGAGAGGAGAGCCCAGAGC	0.592000													22	36					0	0	1	0	0
RPS26	6231	broad.mit.edu	37	12	56437270	56437270	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr12:56437270G>C	ENST00000356464.5	+	3	619	c.305G>C	c.(304-306)aGa>aCa	p.R102T	RPS26_ENST00000552361.1_Missense_Mutation_p.R102T			P62854	RS26_HUMAN	ribosomal protein S26	102					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCCGATTTAGACCTGCGGTG	0.483000													13	34					0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79637313	79637313	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:79637313C>T	ENST00000329214.8	+	3	730	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	109										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGCCCGACATCGCAGTCCCCA	0.577000													14	16					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32158237	32158237	+	Missense_Mutation	SNP	C	C	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr1:32158237C>G	ENST00000373672.3	-	15	1636	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	COL16A1_ENST00000373668.3_Missense_Mutation_p.E374Q|COL16A1_ENST00000271069.6_Missense_Mutation_p.E374Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	374	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTCGGGCCTTCTGCACACTGA	0.642000													19	31					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15828635	15828635	+	Missense_Mutation	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr10:15828635C>T	ENST00000378036.1	-	4	1332	c.156G>A	c.(154-156)atG>atA	p.M52I	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.M347I			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	347					apoptosis	nucleus	calcium ion binding	p.M347I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ATTTATTCTTCATGAGATTTA	0.323000													22	34					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999979	72999979	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr18:72999979G>C	ENST00000322038.5	+	2	3066	c.2482G>C	c.(2482-2484)Gag>Cag	p.E828Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.E873Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCAGCTTTGAGGAGGCGTT	0.607000													11	39					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891631	44891631	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:44891631G>C	ENST00000330997.4	-	4	840	c.776C>G	c.(775-777)tCt>tGt	p.S259C	ZNF285_ENST00000591679.1_Missense_Mutation_p.S266C|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S259C	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACATTTATAAGATTTTTCTCC	0.418000													60	106					0	0	1	0	0
DEFB134	613211	broad.mit.edu	37	8	11851606	11851606	+	Missense_Mutation	SNP	C	C	T	rs148694123		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr8:11851606C>T	ENST00000526438.1	-	2	144	c.84G>A	c.(82-84)atG>atA	p.M28I	DEFB134_ENST00000382205.4_Missense_Mutation_p.M28I	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	28					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		ATTTCTTGTGCATTTCTGATG	0.358000													12	32					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730835	140730835	+	Missense_Mutation	SNP	G	G	C			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr5:140730835G>C	ENST00000523390.1	+	1	1008	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGACGAGAATGACAATG	0.423000													17	32					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18842438	18842438	+	RNA	SNP	G	G	A	rs9604886		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:18842438G>A	ENST00000412938.1	+	0	2208																											TGGGGAAGAGGAGAGTGGCTC	0.627000													6	17					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156841121	156841121	+	Silent	SNP	C	C	T			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr4:156841121C>T	ENST00000536354.2	+	12	1264	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	400					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	GCTCCTACTTCAGCAGTGATG	0.348000													14	29					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588931	33588931	+	Silent	SNP	G	G	A			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr20:33588931G>A	ENST00000262873.7	+	39	5663	c.5571G>A	c.(5569-5571)ggG>ggA	p.G1857G		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1815						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCGTGGCGGGAAGAAGCAGG	0.657000													19	25					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													3	6	---	---	---	---					
FKBP15	23307	broad.mit.edu	37	9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)cafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418													8	325	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80790115	80790116	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr17:80790115_80790116insTC	ENST00000269394.3	-	2	1048_1049	c.215_216insGA	c.(214-216)gccfs	p.A72fs	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	72						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTTGCTTGGGGTCTAGTGAGTT	0.475													58	39	---	---	---	---					
UBA2	10054	broad.mit.edu	37	19	34919386	34919386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr19:34919386delG	ENST00000246548.4	+	1	119	c.49delG	c.(49-51)ggfs	p.G18fs		NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	18					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCGGTGGCCGGGGGCCGGGT	0.741													2	4	---	---	---	---					
CARD10	29775	broad.mit.edu	37	22	37900248	37900249	+	Frame_Shift_Ins	INS	-	-	G	rs35832225		TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chr22:37900248_37900249insG	ENST00000403299.1	-	10	1794_1795	c.1578_1579insC	c.(1576-1581)ccgtgcfs	p.C527fs	CARD10_ENST00000251973.5_Frame_Shift_Ins_p.C527fs|CARD10_ENST00000406271.3_Frame_Shift_Ins_p.C241fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	527					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GAGCCGGCACTGGGGGGGAAGG	0.639													2	4	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41200778	41200778	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HL-7533-01A-11D-2229-08	TCGA-HL-7533-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf8f4a8-be9e-4713-884d-c80ef662d622	db3a90aa-d1c0-4e75-80b4-c1058f469b42	g.chrX:41200778delG	ENST00000399959.2	+	4	1048	c.193delG	c.(193-195)atfs	p.D65fs	DDX3X_ENST00000542215.1_Frame_Shift_Del_p.D109fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.D49fs|DDX3X_ENST00000441189.2_Frame_Shift_Del_p.D65fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	65					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTCTAGCAAAGATAAGGATGC	0.368										HNSCC(61;0.18)			26	5	---	---	---	---					
