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
TYR	7299	broad.mit.edu	37	11	88911237	88911237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:88911237G>A	ENST00000263321.5	+	1	618	c.116G>A	c.(115-117)tGg>tAg	p.W39*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	39					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGTCCACCGTGGAGCGGGGAC	0.547000													29	6					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490130	65490130	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:65490130C>T	ENST00000261883.4	-	9	2660	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	832					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCTTGCAGTTCCTCCCCAGCC	0.557000													54	65					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194892	45194892	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:45194892G>A	ENST00000279027.4	-	11	1488	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	SLC13A3_ENST00000290317.5_Silent_p.I443I|SLC13A3_ENST00000495082.1_Silent_p.I443I|SLC13A3_ENST00000413164.2_Silent_p.I440I|SLC13A3_ENST00000435032.1_Silent_p.I75I|SLC13A3_ENST00000396360.1_Silent_p.I408I|SLC13A3_ENST00000472148.1_Silent_p.I408I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	490						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCGGCAGGAAGATGATGATGG	0.612000													71	96					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41770510	41770510	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:41770510G>A	ENST00000378215.4	+	1	234	c.102_splice	c.e1+1	p.Q34_splice	HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Silent_p.Q34Q|HNRNPUL1_ENST00000392006.3_Silent_p.Q34Q			Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	34	Necessary for interaction with HRMT1L1.|SAP.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCGGCTGCAGGCGGCGTTGG	0.692000													12	4					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169611	10169611	+	RNA	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:10169611C>T	ENST00000495140.1	+	0	2011																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CCCAAGCCAACGACTGCCTGG	0.552000													47	62					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209955400	209955400	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:209955400G>A	ENST00000367024.1	+	17	2079		c.e17-1		TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000477431.1_Splice_Site|TRAF3IP3_ENST00000467830.1_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCCCCCTACAGAGGCAATGTG	0.483000													33	76					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127326753	127326753	+	Silent	SNP	T	T	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:127326753T>G	ENST00000354725.3	+	2	359	c.165T>G	c.(163-165)cgT>cgG	p.R55R		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	55	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCAACATTCGTGCTGGAAATC	0.597000													42	107					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6825394	6825394	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:6825394G>A	ENST00000304076.2	+	8	898	c.804G>A	c.(802-804)caG>caA	p.Q268Q	VAV1_ENST00000539284.1_Silent_p.Q171Q|VAV1_ENST00000596764.1_Silent_p.Q236Q|VAV1_ENST00000599806.1_Silent_p.Q213Q|VAV1_ENST00000602142.1_Silent_p.Q268Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	268	DH.				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						ATCTCTACCAGGTCTTCATCA	0.557000													13	18					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5925516	5925516	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:5925516C>A	ENST00000203001.2	-	3	431	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Intron	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	101					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TGAGATTTCCCATCATCAACT	0.333000													44	49					1.31131e-34	1.36461e-34	1	1	0
LINC01410	103352539	broad.mit.edu	37	9	66458013	66458013	+	RNA	SNP	G	G	T	rs149927749	by1000genomes	TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:66458013G>T	ENST00000424345.1	+	0	67																											CGGTGCTGCAGTGGCGGATCT	0.716000													3	10					0.115264	0.11803	1	1	0
FAM101A	144347	broad.mit.edu	37	12	124796409	124796409	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr12:124796409C>T	ENST00000389727.3	+	2	253	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	FAM101A_ENST00000338359.4_Missense_Mutation_p.R4W|FAM101A_ENST00000546355.1_Missense_Mutation_p.R4W|FAM101A_ENST00000324038.3_Missense_Mutation_p.R4W|RP11-522N14.1_ENST00000540762.1_RNA			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	85										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GATGAGGCCCCGGATGCTGCC	0.657000													16	28					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349669	150349669	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chrX:150349669G>A	ENST00000218316.3	+	2	1683	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	538	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCCTGAGCTCTCTGCCT	0.627000													82	12					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831520	49831520	+	RNA	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:49831520G>A	ENST00000527477.1	+	0	1745																											ATAAGTACTGGAAAGGGAAGA	0.463000													41	34					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11541755	11541755	+	Silent	SNP	A	A	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:11541755A>G	ENST00000356392.4	-	2	417	c.330T>C	c.(328-330)acT>acC	p.T110T	CCDC151_ENST00000545100.1_Silent_p.T56T|CCDC151_ENST00000591179.1_Silent_p.T110T|CCDC151_ENST00000586836.1_5'UTR	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	110										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCAGTGCCTTAGTCTCCTTGC	0.562000													108	133					0	0	1	0	0
NBR2	10230	broad.mit.edu	37	17	41290873	41290873	+	RNA	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:41290873C>T	ENST00000460115.1	+	0	424					NR_003108.1																						gaccgtggggctgcaaggacc	0.587000													30	44					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12638920	12638920	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:12638920G>A	ENST00000376223.2	-	4	907	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	175					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGCCAGCACGGAGTTGAGGCA	0.627000													17	25					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64692043	64692043	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:64692043C>T	ENST00000554584.1	+	115	20269	c.20218C>T	c.(20218-20220)Cgg>Tgg	p.R6740W	SYNE2_ENST00000357395.3_Silent_p.P3204P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.P3204P|SYNE2_ENST00000555002.1_Silent_p.P3475P|SYNE2_ENST00000344113.4_Silent_p.P6819P|SYNE2_ENST00000358025.3_Silent_p.P6841P|SYNE2_ENST00000441438.2_Silent_p.P363P|SYNE2_ENST00000554805.1_Silent_p.P602P|SYNE2_ENST00000458046.2_Silent_p.P490P|SYNE2_ENST00000555022.1_Silent_p.P697P			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	0					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCAGGGTCCCCGGCAGCACAC	0.612000													26	36					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21775366	21775366	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:21775366A>G	ENST00000328843.6	+	47	7601	c.7570A>G	c.(7570-7572)Aca>Gca	p.T2524A	DNAH11_ENST00000409508.3_Missense_Mutation_p.T2517A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2524	AAA 3 (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						AGTGGGAAAAACAGTCTTTGT	0.433000									Kartagener syndrome				31	78					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9455185	9455185	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:9455185T>C	ENST00000379719.3	+	17	2090		c.e17+2			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATGTCTTAGGTATTATACCTC	0.343000													23	50					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584482	189584482	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:189584482C>T	ENST00000264731.3	+	6	867	c.778C>T	c.(778-780)Cct>Tct	p.P260S	TP63_ENST00000440651.2_Missense_Mutation_p.P260S|TP63_ENST00000392460.3_Missense_Mutation_p.P260S|TP63_ENST00000320472.5_Missense_Mutation_p.P260S|TP63_ENST00000392461.3_Missense_Mutation_p.P166S|TP63_ENST00000449992.1_Missense_Mutation_p.P81S|TP63_ENST00000382063.4_Missense_Mutation_p.P175S|TP63_ENST00000437221.1_Missense_Mutation_p.P166S|TP63_ENST00000392463.2_Missense_Mutation_p.P166S|TP63_ENST00000418709.2_Missense_Mutation_p.P260S|TP63_ENST00000456148.1_Missense_Mutation_p.P166S|TP63_ENST00000354600.5_Missense_Mutation_p.P166S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	260					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)		ACAGATTGCCCCTCCTAGTCA	0.423000										HNSCC(45;0.13)			28	45					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70958251	70958251	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr10:70958251C>T	ENST00000359655.4	+	9	1207	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	383	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGAGTCGGCAGATTGA	0.418000													66	15					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010167	35010167	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr5:35010167C>T	ENST00000231420.6	-	12	1476	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	426					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAACAATTTCAAATTCATCC	0.428000													61	60					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434219	72434219	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					nucleosome assembly	chromatin assembly complex		p.A37V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577000													3	40					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95222120	95222120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:95222120G>A	ENST00000005178.5	-	4	678	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	161	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGTAAAATCGATCCAAGAAA	0.383000													31	93					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066151	23066151	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:23066151C>G	ENST00000246006.4	-	1	826	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	227					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTGTCACCTTCCCCACAGGCT	0.622000													46	74					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432608	50432608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr18:50432608C>T	ENST00000442544.2	+	3	1223	c.607C>T	c.(607-609)Caa>Taa	p.Q203*	DCC_ENST00000412726.1_Nonsense_Mutation_p.Q51*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	203	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCCGACTCCAACCGGGGGA	0.498000													20	37					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139267060	139267060	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr5:139267060G>A	ENST00000541337.1	-	2	966	c.737C>T	c.(736-738)aCg>aTg	p.T246M	NRG2_ENST00000545385.1_Missense_Mutation_p.T246M|NRG2_ENST00000289422.7_Missense_Mutation_p.T246M|NRG2_ENST00000358522.3_Missense_Mutation_p.T246M|NRG2_ENST00000340391.3_Missense_Mutation_p.T43M|NRG2_ENST00000289409.4_Missense_Mutation_p.T246M|NRG2_ENST00000361474.1_Missense_Mutation_p.T246M|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000394770.1_Missense_Mutation_p.T246M	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	246	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.T154M(2)|p.T246M(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTCCCGTCTGGCTCTT	0.582000													20	41					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119567944	119567944	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:119567944A>C	ENST00000313400.4	-	13	2463	c.2363T>G	c.(2362-2364)gTg>gGg	p.V788G	ASTN2_ENST00000373996.3_Missense_Mutation_p.V784G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.V737G			O75129	ASTN2_HUMAN	astrotactin 2	788						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCTTGGTTCACATGCTGGGT	0.493000													64	90					0	0	1	0	0
NKAIN1	79570	broad.mit.edu	37	1	31658142	31658142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:31658142C>T	ENST00000373736.2	-	3	231	c.225G>A	c.(223-225)tgG>tgA	p.W75*	NKAIN1_ENST00000263693.1_Nonsense_Mutation_p.W31*|NKAIN1_ENST00000398657.2_Intron	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	75						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		TAAATGCATTCCAGCCAACCC	0.587000													10	20					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708476	51708476	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:51708476C>T	ENST00000415259.1	+	2	1237	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TEX264_ENST00000341333.5_Silent_p.F52F|TEX264_ENST00000457573.1_Silent_p.F52F|TEX264_ENST00000416589.1_Silent_p.F52F|TEX264_ENST00000395057.1_Silent_p.F52F			Q9Y6I9	TX264_HUMAN	testis expressed 264	52						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CCTACAAGTTCCACATGGGGC	0.597000													54	66					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61936863	61936863	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:61936863C>T	ENST00000422202.1	+	3	356	c.288C>T	c.(286-288)ttC>ttT	p.F96F	COL20A1_ENST00000435874.1_Silent_p.F96F|COL20A1_ENST00000326996.6_Silent_p.F96F|COL20A1_ENST00000358894.6_Silent_p.F96F			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	96	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCAGATCTTCGAGCTCACTG	0.627000													7	10					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955923	156955923	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:156955923G>A	ENST00000368194.3	-	2	1114	c.75C>T	c.(73-75)cgC>cgT	p.R25R	ARHGEF11_ENST00000361409.2_Silent_p.R25R	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	25					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGGGGACTTGCGCTCTGGTG	0.527000													41	136					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971137	21971137	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:21971137T>C	ENST00000304494.5	-	2	491	c.221A>G	c.(220-222)gAc>gGc	p.D74G	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74G|CDKN2A_ENST00000530628.2_Silent_p.R88R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23G|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74G|CDKN2A_ENST00000579755.1_Silent_p.R88R|CDKN2A_ENST00000361570.3_Silent_p.R129R|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	74			D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D74V(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTGGCGGGGTCGGCGCAGTT	0.711000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	2					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760264	38760264	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:38760264C>T	ENST00000449082.2	-	20	3560	c.3561G>A	c.(3559-3561)gaG>gaA	p.E1187E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1187					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)	TGTCAGTGTACTCCAGCAAAG	0.512000													32	42					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35743678	35743678	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:35743678C>T	ENST00000400441.3	-	19	2432	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	MROH8_ENST00000217333.8_Silent_p.K640K|MROH8_ENST00000441008.2_Silent_p.K797K					maestro heat-like repeat family member 8																		ACAGAACGATCTTCTCATCGG	0.468000													104	117					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14750147	14750147	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:14750147C>T	ENST00000380881.4	-	31	6353	c.5538G>A	c.(5536-5538)gtG>gtA	p.V1846V	FREM1_ENST00000380894.1_Silent_p.V381V|FREM1_ENST00000380880.3_Silent_p.V1845V|FREM1_ENST00000422223.2_Silent_p.V1845V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1845					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)		CCAAAATTTTCACTGCAGCTT	0.443000													42	9					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													4	134					0.184627	0.186081	1	1	0
DDRGK1	65992	broad.mit.edu	37	20	3183990	3183990	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:3183990G>A	ENST00000354488.3	-	2	221	c.164C>T	c.(163-165)cCt>cTt	p.P55L	DDRGK1_ENST00000380201.2_Missense_Mutation_p.P55L	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	55						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGGCTCCTCAGGCTCCAGGGG	0.692000													10	11					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067601	46067601	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr4:46067601C>T	ENST00000295452.4	-	4	489	c.321_splice	c.e4-1	p.E108_splice		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	108					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTGTATATTCCTAAAATATA	0.284000													12	11					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067600	46067600	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr4:46067600T>C	ENST00000295452.4	-	4	490	c.321_splice	c.e4-1	p.E108_splice		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	108					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TATTGTATATTCCTAAAATAT	0.279000													12	12					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57670572	57670572	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:57670572C>T	ENST00000554048.2	-	3	254	c.255G>A	c.(253-255)caG>caA	p.Q85Q		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GCCCCTGGCTCTGGCTTGATT	0.473000													86	47					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937340	4937340	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:4937340G>A	ENST00000512825.2	-	3	1855	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC52A1_ENST00000424747.1_Silent_p.F148F|SLC52A1_ENST00000254853.5_Silent_p.F148F			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	148						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCTGACCCAGGAAGAAAGACC	0.592000													50	66					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14758694	14758694	+	Silent	SNP	T	T	C	rs113374603		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr5:14758694T>C	ENST00000284268.6	-	3	657	c.327A>G	c.(325-327)ttA>ttG	p.L109L		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	109					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTAGTATCCTAAATCACTAT	0.393000													3	72					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67325225	67325225	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr16:67325225G>A	ENST00000304372.5	-	14	2607	c.2552C>T	c.(2551-2553)gCc>gTc	p.A851V		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	851						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)		CAGCCGATTGGCCAGGGAGAC	0.552000													25	37					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459845	66459845	+	RNA	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:66459845G>A	ENST00000424345.1	+	0	105																											cacttggtgaggtcatgtttt	0.363000													3	9					0	0	1	0	0
HLA-DOB	3112	broad.mit.edu	37	6	32781529	32781529	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr6:32781529C>T	ENST00000438763.2	-	4	821	c.725G>A	c.(724-726)gGa>gAa	p.G242E		NM_002120.3	NP_002111.1			major histocompatibility complex, class II, DO beta											endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GATGACGATTCCCACCAGAAG	0.517000													11	3					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020889	5020889	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:5020889C>G	ENST00000321543.1	+	1	677	c.677C>G	c.(676-678)aCt>aGt	p.T226S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCTTAATACTGTGCTGGAT	0.418000													30	88					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14496142	14496142	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:14496142G>A	ENST00000249923.3	-	14	1936	c.1636C>T	c.(1636-1638)Ctt>Ttt	p.L546F	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L546F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	546					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CCATCCAGAAGGAATCCTCTC	0.443000													116	82					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310831	178310831	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr5:178310831C>T	ENST00000322434.3	+	5	1604	c.1378C>T	c.(1378-1380)Cat>Tat	p.H460Y		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			TGAGCGAATTCATACTGGAGA	0.373000													50	74					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1563483	1563483	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:1563483C>G	ENST00000357210.4	+	14	2155	c.1939C>G	c.(1939-1941)Cca>Gca	p.P647A	MIB2_ENST00000504599.1_Missense_Mutation_p.P603A|MIB2_ENST00000518681.1_Missense_Mutation_p.P639A|MIB2_ENST00000378708.1_Missense_Mutation_p.P553A|MIB2_ENST00000378710.3_Missense_Mutation_p.P611A|MIB2_ENST00000378712.1_Missense_Mutation_p.P524A|MIB2_ENST00000505820.2_Missense_Mutation_p.P704A|MIB2_ENST00000520777.1_Missense_Mutation_p.P700A|MIB2_ENST00000360522.4_Missense_Mutation_p.P612A|MIB2_ENST00000355826.5_Missense_Mutation_p.P690A	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	647					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGGAGGTGCCAAACATCGA	0.662000													23	46					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408793	10408793	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:10408793C>T	ENST00000226207.5	-	20	2304	c.2210G>A	c.(2209-2211)gGa>gAa	p.G737E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	737	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.G737E(1)|p.G737V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGAATTGTCCTTCAGGGAT	0.423000													40	53					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839855	40839855	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:40839855C>T	ENST00000264638.4	+	8	1379	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	388					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGTCTCATTTCGCTTCCGCAC	0.642000													55	50					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203661	94203661	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:94203661G>A	ENST00000393140.1	-	4	387	c.285C>T	c.(283-285)atC>atT	p.I95I	PRIMA1_ENST00000316227.3_Silent_p.I95I|PRIMA1_ENST00000393143.1_Silent_p.I95I	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	95					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CGGCAATGATGATCACCAGCC	0.532000													23	30					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729179	66729179	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:66729179C>T	ENST00000307102.5	+	3	918	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	129	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCGTGGGCTTCTATGGTGCGT	0.517000													51	67					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626580	6626580	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr6:6626580C>T	ENST00000379953.2	+	4	630	c.278C>T	c.(277-279)tCt>tTt	p.S93F	LY86_ENST00000230568.4_Missense_Mutation_p.S93F			O95711	LY86_HUMAN	lymphocyte antigen 86	93			S -> P (in dbSNP:rs5743649).		apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CAAGGCTCATCTGTTTTGAAT	0.458000													33	72					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896368	56896368	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:56896368G>A	ENST00000301310.4	-	5	576	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	ZNF582_ENST00000586929.1_Missense_Mutation_p.H140Y	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATCATCTGATGGAAATGTCTG	0.388000													75	161					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898852	37898852	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:37898852C>T	ENST00000309156.4	+	3	446	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRB7_ENST00000309185.3_Silent_p.S63S|GRB7_ENST00000445327.2_Silent_p.S86S|GRB7_ENST00000394211.3_Silent_p.S63S|GRB7_ENST00000394209.2_Silent_p.S63S|GRB7_ENST00000394204.1_Silent_p.S63S|GRB7_ENST00000578702.1_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGCCACCTCCCTCCCCTCTA	0.627000													75	112					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110248119	110248119	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:110248119C>T	ENST00000374672.4	-	5	1826	c.1353G>A	c.(1351-1353)acG>acA	p.T451T		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	485					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCGGTGCCCCGTGTGTTTAC	0.527000													66	103					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962727	33962727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:33962727C>T	ENST00000389232.4	+	38	5900	c.5830C>T	c.(5830-5832)Cag>Tag	p.Q1944*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.Q1944*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1944	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGAAGGAGCAGCCGACGGA	0.458000													27	49					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99828055	99828055	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:99828055T>A	ENST00000301981.3	+	5	524	c.284T>A	c.(283-285)cTt>cAt	p.L95H	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_Missense_Mutation_p.L95H|LRRC28_ENST00000422500.2_Missense_Mutation_p.L95H|LRRC28_ENST00000447360.2_Missense_Mutation_p.L95H|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	95										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TGTCTGGATCTTAGTGACAAT	0.383000													4	101					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434805	49434805	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr12:49434805G>A	ENST00000301067.7	-	31	6747	c.6748C>T	c.(6748-6750)Ccc>Tcc	p.P2250S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCAGCGAGGGGCAGCGGGGT	0.657000													35	29					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162632	33162632	+	RNA	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr5:33162632C>T	ENST00000510327.1	-	0	346																											TAAGATGTCCCACTACGTGCT	0.463000													14	11					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4572297	4572297	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:4572297A>T	ENST00000262352.3	+	7	912	c.676A>T	c.(676-678)Att>Ttt	p.I226F		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	226					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGGACTTGTCATTGGAAAAAT	0.398000													100	24					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587826	200587826	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:200587826C>T	ENST00000367350.4	-	2	464	c.26G>A	c.(25-27)aGa>aAa	p.R9K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	9	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCTGTTATTTCTATTATGAGT	0.368000													86	54					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													4	50					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459808	66459808	+	RNA	SNP	G	G	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:66459808G>T	ENST00000424345.1	+	0	68																											ttttctccaggatttgtcccc	0.338000													3	5					1	1	1	1	0
GPR128	84873	broad.mit.edu	37	3	100352141	100352141	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:100352141C>G	ENST00000273352.3	+	4	635	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTTGTGCAGTCTCTCTCTATA	0.333000													26	25					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84269865	84269865	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr6:84269865C>T	ENST00000428679.2	-	28	3182	c.2589G>A	c.(2587-2589)atG>atA	p.M863I	SNAP91_ENST00000439399.2_Missense_Mutation_p.M863I|SNAP91_ENST00000437520.1_Missense_Mutation_p.M556I|SNAP91_ENST00000369694.2_Missense_Mutation_p.M863I|SNAP91_ENST00000521485.1_Missense_Mutation_p.M858I|SNAP91_ENST00000520213.1_Missense_Mutation_p.M556I|SNAP91_ENST00000195649.6_Missense_Mutation_p.M858I|SNAP91_ENST00000520302.1_Missense_Mutation_p.M833I|SNAP91_ENST00000521743.1_Missense_Mutation_p.M863I			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	863	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGGCCTCATCATGGGCTGTG	0.522000													28	7					0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3183991	3183991	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:3183991G>A	ENST00000354488.3	-	2	220	c.163C>T	c.(163-165)Cct>Tct	p.P55S	DDRGK1_ENST00000380201.2_Missense_Mutation_p.P55S	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	55						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGCTCCTCAGGCTCCAGGGGC	0.697000													10	11					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70345913	70345913	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chrX:70345913G>A	ENST00000333646.6	+	18	2649	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	MED12_ENST00000374080.3_Missense_Mutation_p.R817H|MED12_ENST00000374102.1_Missense_Mutation_p.R817H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	817					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	p.R817H(1)		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)					AAGCGGCGACGCAACCGGCCT	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	115					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73220058	73220058	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:73220058T>C	ENST00000541685.1	-	3	227	c.215A>G	c.(214-216)tAt>tGt	p.Y72C	DPF3_ENST00000546183.1_Missense_Mutation_p.Y82C|DPF3_ENST00000556509.1_Missense_Mutation_p.Y72C	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	72					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGGGTATGTATACAGCTGGCC	0.552000													10	21					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49146575	49146575	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:49146575A>T	ENST00000434032.2	-	27	4287	c.4076T>A	c.(4075-4077)gTg>gAg	p.V1359E	USP19_ENST00000417901.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.V1258E|USP19_ENST00000398898.2_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.V1298E	NM_001199160.1	NP_001186089.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1258					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCTCAGGCACCGGCTCCTC	0.692000													3	8					0	0	1	0	0
CBX3	11335	broad.mit.edu	37	7	26251734	26251734	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:26251734C>T	ENST00000337620.4	+	6	886	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CBX3_ENST00000396386.2_Missense_Mutation_p.A153V|CBX3_ENST00000409747.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	153	Chromo 2; shadow subtype.				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	p.A153V(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTGGTGCTGGCGAAAGAGGCA	0.373000													13	55					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289487	62289487	+	Silent	SNP	A	A	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:62289487A>C	ENST00000378024.4	-	5	12676	c.12402T>G	c.(12400-12402)gtT>gtG	p.V4134V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4134					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GATTCAGGTCAACTTCAGGCA	0.502000													84	21					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99933442	99933442	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chrX:99933442C>T	ENST00000455616.1	-	17	2159	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	SYTL4_ENST00000276141.6_Missense_Mutation_p.E605K|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000372989.1_Missense_Mutation_p.E605K|SYTL4_ENST00000263033.5_Missense_Mutation_p.E605K|SYTL4_ENST00000454200.2_Missense_Mutation_p.E607K			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	605	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCAGGGGCTCCCGGTCCCAC	0.542000													36	4					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784289	160784289	+	Silent	SNP	A	A	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:160784289A>C	ENST00000263285.5	+	4	840	c.810A>C	c.(808-810)gcA>gcC	p.A270A	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.A230A|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Silent_p.A270A	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	270	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCCACTTGCACTCCCAGCCT	0.552000													103	47					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	66					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51190268	51190268	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:51190268G>A	ENST00000245441.5	-	31	6505	c.6315C>T	c.(6313-6315)ctC>ctT	p.L2105L	NIN_ENST00000530997.2_Silent_p.L2105L|NIN_ENST00000389868.3_3'UTR	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1952					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTCCTCCAGGAGGTAATTTT	0.453000			T	PDGFRB	MPD								44	52					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52193785	52193785	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:52193785A>C	ENST00000371471.2	-	4	1943	c.1518T>G	c.(1516-1518)taT>taG	p.Y506*	ZNF217_ENST00000302342.3_Nonsense_Mutation_p.Y506*			O75362	ZN217_HUMAN	zinc finger protein 217	506					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGGCTGCAGCATATTCACAAA	0.368000													34	48					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89973658	89973658	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr16:89973658C>T	ENST00000263346.8	+	16	1783	c.1727C>T	c.(1726-1728)aCc>aTc	p.T576I	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.T341I	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	576					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)		AAGGACGTGACCACGCAGTCT	0.557000													114	185					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635268	179635268	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:179635268C>T	ENST00000589042.1	-	35	8475	c.8251G>A	c.(8251-8253)Gaa>Aaa	p.E2751K	TTN_ENST00000359218.5_Missense_Mutation_p.E2705K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2705K|TTN_ENST00000342175.6_Missense_Mutation_p.E2705K|TTN_ENST00000342992.6_Missense_Mutation_p.E2751K|TTN_ENST00000360870.5_Missense_Mutation_p.E2751K|TTN_ENST00000591111.1_Missense_Mutation_p.E2751K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2489							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)			GCATACTTTTCATTGGATTCC	0.428000													73	88					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135517065	135517065	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr6:135517065C>T	ENST00000341911.5	+	9	1327	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	MYB_ENST00000528774.1_Silent_p.I373I|MYB_ENST00000533624.1_Silent_p.I341I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Silent_p.I376I|MYB_ENST00000442647.2_Silent_p.I373I|MYB_ENST00000527615.1_Silent_p.I376I|MYB_ENST00000534044.1_Silent_p.I376I|MYB_ENST00000367814.4_Silent_p.I376I|MYB_ENST00000316528.8_Silent_p.I376I|MYB_ENST00000525369.1_Intron|MYB-AS1_ENST00000455534.1_RNA	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	376	Leucine-zipper.|Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGTGCATGATCGTCCACCAGG	0.478000			T	NFIB	adenoid cystic carcinoma								29	5					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10439677	10439677	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:10439677G>C	ENST00000293677.6	-	3	529	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	133	RRM 2.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			ACACACAGCAGGGCATCCGTG	0.662000													10	10					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21896140	21896140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:21896140C>A	ENST00000399982.2	-	3	1553	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.E497*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.E218*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	497					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTCGCCTTCCTCCTCTGGC	0.542000													31	33					1.39806e-14	1.44315e-14	1	1	0
TTYH3	80727	broad.mit.edu	37	7	2687222	2687222	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:2687222G>A	ENST00000258796.7	+	4	781	c.576G>A	c.(574-576)gcG>gcA	p.A192A	TTYH3_ENST00000407643.1_Silent_p.A192A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	192						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GGAACACGGCGGTGTCGCTGG	0.697000													5	6					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				59	40					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492754	247492754	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:247492754G>A	ENST00000294753.4	-	3	591	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	ZNF496_ENST00000366498.2_Missense_Mutation_p.R43C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	43	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGGAAGAGACGCCGAGAGGAC	0.697000													27	123					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546011	138546011	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:138546011G>A	ENST00000440172.1	-	16	5169	c.5121C>T	c.(5119-5121)acC>acT	p.T1707T	KIAA1549_ENST00000422774.1_Silent_p.T1707T|KIAA1549_ENST00000242365.4_Silent_p.T1657T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1707						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTACACCTGCGGTGCTGGCAG	0.697000			O	BRAF	pilocytic astrocytoma								29	55					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255235	21255235	+	Missense_Mutation	SNP	G	G	A	rs148167725		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:21255235G>A	ENST00000233242.1	-	10	1470	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	APOB_ENST00000399256.4_Missense_Mutation_p.A448V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	448	Vitellogenin.				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	p.A448V(1)		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)	CTTGTTGACCGCGTGGCTCAG	0.557000													50	46					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838020	17838020	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:17838020C>T	ENST00000324096.4	+	5	1978	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.P583P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	609	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCCACGCCCAGCCTGGAGC	0.706000													6	5					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2579865	2579865	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:2579865T>G	ENST00000397195.5	+	9	1418	c.967T>G	c.(967-969)Tgg>Ggg	p.W323G	PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	323	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TATTAAGATGTGGGATGTCAG	0.373000													27	46					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843765	28843765	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:28843765C>T	ENST00000422425.2	+	48	3458	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N	PLB1_ENST00000541605.1_Silent_p.N114N|PLB1_ENST00000327757.5_Silent_p.N1149N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1149	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAAGTTCAACCCTTACCTCC	0.552000													46	91					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21964743	21964743	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:21964743C>T	ENST00000405508.1	+	10	2121	c.1845C>T	c.(1843-1845)aaC>aaT	p.N615N	TOX4_ENST00000448790.2_Silent_p.N592N|TOX4_ENST00000262709.3_Silent_p.N615N			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	615						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GAAATTCAAACACAGTGGTGT	0.413000													53	48					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879233	144879233	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:144879233C>T	ENST00000369359.4	-	30	4663	c.4625G>A	c.(4624-4626)gGg>gAg	p.G1542E	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G1406E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1406E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1542E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1362E|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1406					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGTGAAGACCCCTCCAAGGT	0.547000			T	PDGFRB	MPD								57	218					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612417	20612417	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:20612417G>A	ENST00000333629.1	+	1	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D175N(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAACCAGCTCGATAACTTCTT	0.502000													66	91					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2687223	2687223	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:2687223G>C	ENST00000258796.7	+	4	782	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TTYH3_ENST00000407643.1_Missense_Mutation_p.V193L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	193						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAACACGGCGGTGTCGCTGGA	0.692000													5	6					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148748	44148748	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr12:44148748G>A	ENST00000416848.2	-	2	789	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	PUS7L_ENST00000344862.5_Missense_Mutation_p.H101Y|PUS7L_ENST00000551923.1_Missense_Mutation_p.H101Y|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.H101Y	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	101					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CCAGACTGATGATTTTGGTCA	0.348000													39	41					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44175319	44175319	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:44175319T>C	ENST00000260665.7	-	18	1919	c.1862A>G	c.(1861-1863)aAt>aGt	p.N621S		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	621					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTGTAGATATTTTCAGGAAT	0.368000													32	39					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179449	100179449	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:100179449G>A	ENST00000310300.6	-	4	601	c.549C>T	c.(547-549)tcC>tcT	p.S183S	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCCCGCAGGGAAGAGAGGC	0.587000													55	39					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187992	37187992	+	RNA	SNP	T	T	C			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:37187992T>C	ENST00000425901.2	+	0	1834					NR_033753.2																						TAGCTCAACCTCCTGTGTATT	0.502000													30	32					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49146576	49146576	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:49146576C>T	ENST00000434032.2	-	27	4286	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	USP19_ENST00000417901.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.V1258M|USP19_ENST00000398898.2_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.V1298M	NM_001199160.1	NP_001186089.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1258					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTCAGGCACCGGCTCCTCC	0.687000													3	8					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432092	6432092	+	Missense_Mutation	SNP	C	C	A	rs145320037		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:6432092C>A	ENST00000389906.2	-	2	585	c.486G>T	c.(484-486)gaG>gaT	p.E162D	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcctcctcctcct	0.637000													4	83					0.150653	0.153045	1	1	0
TEX15	56154	broad.mit.edu	37	8	30702623	30702623	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr8:30702623G>A	ENST00000256246.2	-	1	3985	c.3911C>T	c.(3910-3912)cCt>cTt	p.P1304L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1304										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTCTCAATAGGATCTGTCCA	0.333000													96	67					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128264	152128264	+	Silent	SNP	G	G	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:152128264G>A	ENST00000316073.3	-	3	1375	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	437	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GACCATAGTGGGAACTCTGGC	0.542000													378	1435					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49146577	49146577	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:49146577C>T	ENST00000434032.2	-	27	4285	c.4074G>A	c.(4072-4074)ccG>ccA	p.P1358P	USP19_ENST00000417901.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Intron|USP19_ENST00000398888.2_Silent_p.P1257P|USP19_ENST00000398898.2_Intron|USP19_ENST00000398892.3_Silent_p.P1297P	NM_001199160.1	NP_001186089.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1257					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCAGGCACCGGCTCCTCCT	0.692000													3	8					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGCTCCTTCTCTGAGTGG	0.502000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				24	52					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826821	92826821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:92826821C>T	ENST00000394468.2	-	5	1192	c.1115G>A	c.(1114-1116)tGg>tAg	p.W372*	HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.W395*|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.W360*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.W360*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	372						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATATTTTTTCCATAGGAAGAG	0.308000													23	72					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113470453	113470453	+	Silent	SNP	C	C	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr13:113470453C>T	ENST00000487903.1	+	6	586	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ATP11A_ENST00000375645.3_Silent_p.F166F|ATP11A_ENST00000375630.2_Silent_p.F166F|ATP11A_ENST00000283558.8_Silent_p.F166F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	166					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				ACTTGATCTTCCTTTCCAGCA	0.537000													41	43					0	0	1	0	0
RP11-417J8.2	0	broad.mit.edu	37	1	142585978	142585979	+	RNA	DEL	AT	AT	-	rs113516449		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:142585978_142585979delAT	ENST00000415979.2	-	0	167																											AGTTAAAAACATAAAATCCAGT	0.396													3	3	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142698354	142698355	+	RNA	INS	-	-	A	rs4241067		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:142698354_142698355insA	ENST00000369381.2	-	0	2291																											CTAAAATGAACGAAAAAAAATC	0.287													4	3	---	---	---	---					
RP11-435B5.6	0	broad.mit.edu	37	1	143504722	143504722	+	RNA	DEL	T	T	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:143504722delT	ENST00000429884.1	+	0	167																											gtactcttaattttttattta	0.294													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145099939	145099940	+	RNA	INS	-	-	AGC			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:145099939_145099940insAGC	ENST00000453618.1	+	0	402							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										TTGATACAACTAGTTGTTCAGC	0.381													3	4	---	---	---	---					
FMO9P	116123	broad.mit.edu	37	1	166576704	166576704	+	RNA	DEL	A	A	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:166576704delA	ENST00000477875.1	+	0	408					NR_002925.2																						aggcaggattaatgggccaga	0.433													2	4	---	---	---	---					
RP11-400N13.2	0	broad.mit.edu	37	1	222143230	222143230	+	RNA	DEL	C	C	-	rs35879285		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr1:222143230delC	ENST00000441160.1	+	0	93																											tttccttcttccctgtttctc	0.498													4	5	---	---	---	---					
AC006369.2	0	broad.mit.edu	37	2	37858130	37858131	+	RNA	INS	-	-	TT			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:37858130_37858131insTT	ENST00000419425.1	+	0	313																											GCTTTCCCATGTTTTTTTTTTT	0.366													4	2	---	---	---	---					
AC007131.2	0	broad.mit.edu	37	2	59606214	59606214	+	RNA	DEL	A	A	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr2:59606214delA	ENST00000444001.2	-	0	474				RP11-444A22.1_ENST00000606382.1_lincRNA																							tggagaagagaaagaactcaa	0.333													2	4	---	---	---	---					
TTLL3	26140	broad.mit.edu	37	3	9867634	9867635	+	Splice_Site	INS	-	-	G			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:9867634_9867635insG	ENST00000383827.1	+	2	2519		c.e2+2		TTLL3_ENST00000427853.3_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|TTLL3_ENST00000397241.1_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site|TTLL3_ENST00000547186.1_Splice_Site|TTLL3_ENST00000455274.1_Splice_Site|TTLL3_ENST00000430793.1_Splice_Site|TTLL3_ENST00000466245.1_Splice_Site			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCGGACGAGGTGGGGGTCAGCT	0.569													31	43	---	---	---	---					
CLRN1-AS1	116933	broad.mit.edu	37	3	150716913	150716913	+	RNA	DEL	A	A	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr3:150716913delA	ENST00000476886.1	+	0	123				RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA																							TATCTGCCTCAAAGCCGAGGA	0.408													2	4	---	---	---	---					
PTCHD4	442213	broad.mit.edu	37	6	47846782	47846782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr6:47846782delC	ENST00000339488.4	-	3	1831	c.1798delG	c.(1798-1800)aafs	p.E600fs		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	600						integral to membrane	hedgehog receptor activity										ATATTGCTTTCATCCCCTGCC	0.423													30	88	---	---	---	---					
AC004895.4	0	broad.mit.edu	37	7	6131773	6131773	+	RNA	DEL	C	C	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:6131773delC	ENST00000435547.1	+	0	523																											tcttcttcttcctcttcctct	0.398													2	4	---	---	---	---					
NSUN5P2	260294	broad.mit.edu	37	7	72424515	72424516	+	RNA	INS	-	-	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:72424515_72424516insT	ENST00000388955.4	-	0	287					NR_033323.2															breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						TGGGGtttttgtttttttttag	0.520													2	4	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102902950	102902950	+	RNA	DEL	A	A	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:102902950delA	ENST00000312132.4	-	0	2401																											tgaaggacataaacacaaatt	0.353													2	4	---	---	---	---					
KCP	375616	broad.mit.edu	37	7	128519015	128519015	+	RNA	DEL	G	G	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr7:128519015delG	ENST00000476647.2	-	0	4189							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region				central_nervous_system(1)|endometrium(3)	4						TCCTGCATGAGGGCACCTTCT	0.592													2	4	---	---	---	---					
ZNF703	80139	broad.mit.edu	37	8	37553731	37553734	+	Frame_Shift_Del	DEL	CCCC	CCCC	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr8:37553731_37553734delCCCC	ENST00000331569.4	+	1	463_466	c.234_237delCCCC	c.(232-237)agfs	p.SP78fs		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	78					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CTCCCGTCAGCCCCATTGAGGTCA	0.725													9	36	---	---	---	---					
RP11-122C21.1	0	broad.mit.edu	37	8	92832685	92832686	+	RNA	INS	-	-	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr8:92832685_92832686insA	ENST00000518416.1	-	0	285																											tgaaatgaaggaaaaaatgtta	0.411													2	4	---	---	---	---					
LINC00536	100859921	broad.mit.edu	37	8	117181611	117181611	+	RNA	DEL	A	A	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr8:117181611delA	ENST00000505156.2	-	0	1333					NR_046215.1																						GAATTTGAAGAAAAAAAAAAA	0.338													2	4	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66465028	66465029	+	RNA	INS	-	-	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:66465028_66465029insA	ENST00000424345.1	+	0	224																											GCAGGCTGAGGGATCCAAGGGG	0.426													2	4	---	---	---	---					
RP11-247A12.2	0	broad.mit.edu	37	9	131948041	131948042	+	RNA	INS	-	-	CA			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr9:131948041_131948042insCA	ENST00000372490.3	+	0	367																											cacacaccctgcacacacacac	0.520													2	4	---	---	---	---					
RP11-347E10.1	0	broad.mit.edu	37	11	110242038	110242038	+	RNA	DEL	G	G	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr11:110242038delG	ENST00000526605.1	+	0	563																											agtgtgagctgaactgatgtg	0.542													2	4	---	---	---	---					
PTPRR	5801	broad.mit.edu	37	12	71158538	71158539	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr12:71158538_71158539insT	ENST00000283228.2	-	3	829_830	c.377_378insA	c.(376-378)aaafs	p.K126fs	PTPRR_ENST00000342084.4_Frame_Shift_Ins_p.K14fs	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	126					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGTTCAGCTTGTTTACATCCAT	0.361													37	64	---	---	---	---					
BBS10	79738	broad.mit.edu	37	12	76741015	76741016	+	Frame_Shift_Ins	INS	-	-	GGGC			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr12:76741015_76741016insGGGC	ENST00000393262.3	-	2	832_833	c.749_750insGCCC	c.(748-750)cgcfs	p.-250fs		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10						cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CACCATCTGCTGGGCGGTACAC	0.421									Bardet-Biedl syndrome				14	34	---	---	---	---					
RP11-58E21.5	0	broad.mit.edu	37	14	50519464	50519465	+	RNA	DEL	AC	AC	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr14:50519464_50519465delAC	ENST00000556019.2	-	0	186																											gcacacacagacacacacacac	0.495													3	6	---	---	---	---					
CHEK2P2	646096	broad.mit.edu	37	15	20491110	20491111	+	RNA	INS	-	-	A	rs60408042		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:20491110_20491111insA	ENST00000555186.1	+	0	568					NR_038836.1																						CTGCTCTTCATAGGTGGGGTGC	0.559													4	7	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25229997	25229998	+	RNA	DEL	CC	CC	-	rs75457976		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:25229997_25229998delCC	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						tgtatgCGCGCCCGCGTTTGTT	0.460													2	4	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr15:55631503delT	ENST00000164305.5	+	7	1124	c.833delT	c.(832-834)atfs	p.I278fs	PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													2	4	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29268996	29268996	+	RNA	DEL	G	G	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr16:29268996delG	ENST00000398878.3	+	0	214																											gggtcactgtgggtaactggg	0.617													2	4	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													10	271	---	---	---	---					
LINC00922	283867	broad.mit.edu	37	16	65396959	65396959	+	RNA	DEL	T	T	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr16:65396959delT	ENST00000569736.1	-	0	567				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						Ctaaaaaaaatatatatattt	0.303													4	5	---	---	---	---					
HIC1	3090	broad.mit.edu	37	17	1961875	1961875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:1961875delT	ENST00000399849.2	+	2	2051	c.1891delT	c.(1891-1893)ttfs	p.F631fs	HIC1_ENST00000322941.3_Frame_Shift_Del_p.F650fs	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	650					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CGAGGGCGTCTTTGCTGTGGC	0.761													2	4	---	---	---	---					
RP11-697E22.2	0	broad.mit.edu	37	17	36003613	36003614	+	RNA	INS	-	-	T	rs10543338		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr17:36003613_36003614insT	ENST00000586163.1	+	0	590				RP11-697E22.2_ENST00000586950.1_RNA																							CATTAtttatcttttttttttt	0.510													2	4	---	---	---	---					
SEC1P	653677	broad.mit.edu	37	19	49151272	49151273	+	RNA	INS	-	-	A			TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr19:49151272_49151273insA	ENST00000430145.2	+	0	48					NR_004401.2																						ccagcctgaccaaaatggtgca	0.520													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29589314	29589314	+	RNA	DEL	A	A	-	rs145685987		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr20:29589314delA	ENST00000432067.1	-	0	152																											tgcatcctgtaagttttgttg	0.318													4	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11048496	11048497	+	RNA	DEL	AT	AT	-	rs113591690		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr21:11048496_11048497delAT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAAAGtcacatgttttatctc	0.396													3	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11062214	11062214	+	RNA	DEL	C	C	-	rs138015239		TCGA-D9-A6EG-06A-12D-A32N-08	TCGA-D9-A6EG-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d919968f-a427-49c9-8816-215a93ba33f2	1081b104-af53-4277-9a01-3f3aa3a32a19	g.chr21:11062214delC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		taaaaagaaaccccccaaaaa	0.299													4	8	---	---	---	---