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
CRNN	49860	broad.mit.edu	37	1	152383173	152383173	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:152383173C>A	ENST00000271835.3	-	3	447	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	129					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGCTGCCCTTTCCCCGCC	0.637000													12	323					3.27435e-08	3.50976e-08	1	1	0
LATS1	9113	broad.mit.edu	37	6	150001152	150001152	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:150001152T>C	ENST00000543571.1	-	5	2999	c.2452A>G	c.(2452-2454)Agt>Ggt	p.S818G	LATS1_ENST00000253339.5_Missense_Mutation_p.S818G|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	818	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTATGAACACTTTCAACTGCA	0.373000													27	61					0	0	1	0	0
SLC25A35	399512	broad.mit.edu	37	17	8197966	8197966	+	Missense_Mutation	SNP	C	C	G	rs140818558	byFrequency	TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:8197966C>G	ENST00000380067.2	-	1	204	c.160G>C	c.(160-162)Ggc>Cgc	p.G54R	SLC25A35_ENST00000580340.1_Missense_Mutation_p.G54R|SLC25A35_ENST00000396278.1_Missense_Mutation_p.G54R|SLC25A35_ENST00000577745.1_Missense_Mutation_p.G54R|SLC25A35_ENST00000579192.1_Missense_Mutation_p.G54R	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	54					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						TCCACCTTGCCGATGGTGATG	0.597000													11	19					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136252	55136252	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:55136252C>T	ENST00000314706.3	+	1	893	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTGATAAATCCATGACTGTA	0.403000													50	125					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408812	45408812	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr15:45408812G>A	ENST00000323030.5	+	4	724	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	147					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GAACGCACTGGAGAAGGGGCT	0.602000													12	39					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204943842	204943842	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:204943842C>T	ENST00000367172.4	+	14	1777	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000367170.4_Silent_p.N483N|NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000338515.6_Silent_p.N483N|NFASC_ENST00000401399.1_Silent_p.N483N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000403080.1_Silent_p.N483N			O94856	NFASC_HUMAN	neurofascin	483	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTATGAGAACGGCAGTCTGG	0.512000													43	69					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553118	178553118	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr5:178553118G>A	ENST00000251582.7	-	18	2732	c.2631C>T	c.(2629-2631)acC>acT	p.T877T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	877	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCATACTTGGTGAACTGGG	0.662000													37	118					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92247520	92247520	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:92247520C>T	ENST00000265734.4	-	7	1111	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	CDK6_ENST00000424848.2_Splice_Site_p.V234M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTCCAATCACGCTACAAAAG	0.443000			T	MLLT10	ALL								12	34					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726607	3726607	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr20:3726607C>T	ENST00000254963.2	+	7	749	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R36C	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	202							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGACACTGTGCGCTGGGTGTT	0.632000													27	32					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53158478	53158478	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:53158478C>T	ENST00000376352.2	+	16	1630	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	STXBP4_ENST00000434978.2_Missense_Mutation_p.P453S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	475						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ACGTAGCATCCCAGCAACGCT	0.393000													33	66					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978897	107978897	+	Silent	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:107978897C>G	ENST00000372129.2	-	1	754	c.678G>C	c.(676-678)gcG>gcC	p.A226A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	226	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGGTGGCTCCGCCGCCGCTG	0.682000													6	52					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	672883	672883	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr18:672883C>T	ENST00000323274.10	+	7	967	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Silent_p.F193F|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.F242F|ENOSF1_ENST00000383578.3_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	276					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CCAGACCTTTCCCAAAGCTCA	0.393000													26	35					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45747045	45747045	+	Splice_Site	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:45747045C>G	ENST00000290158.4	+	11	1633	c.1226C>G	c.(1225-1227)gCt>gGt	p.A409G	KPNB1_ENST00000540627.1_Splice_Site_p.A264G|KPNB1_ENST00000535458.2_Splice_Site_p.A264G|KPNB1_ENST00000537679.1_Splice_Site_p.A193G	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	409	Ran-GTP binding.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TATTTTCAGGCTATGCCCACC	0.383000													29	59					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644777	169644777	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:169644777A>T	ENST00000428432.2	+	6	1116	c.727A>T	c.(727-729)Aag>Tag	p.K243*	SAMD7_ENST00000335556.3_Nonsense_Mutation_p.K243*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	243										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AACGAATGAAAAGCCAACGAC	0.517000													24	48					0	0	1	0	0
PTGES3	10728	broad.mit.edu	37	12	57064086	57064086	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:57064086G>A	ENST00000262033.6	-	5	648	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PTGES3_ENST00000414274.3_Intron|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000448157.2_Silent_p.D116D|PTGES3_ENST00000436399.2_Silent_p.D83D|PTGES3_ENST00000456859.2_Silent_p.D80D	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	116	Asp/Glu-rich.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding			large_intestine(1)|lung(1)	2						AATTAGACATGTCTTCATCTG	0.368000													13	59					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227633	74227633	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:74227633C>G	ENST00000316292.9	-	7	2280	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T	EEF1A1_ENST00000331523.2_Missense_Mutation_p.R430T|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R430T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	430						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AACTGTCTGTCTCATATCACG	0.408000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	58					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23417501	23417501	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr16:23417501C>T	ENST00000307149.5	-	12	1743	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	520					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TTCTTCTTGTCTGTCAAGATG	0.438000													33	67					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006529	186006529	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:186006529C>T	ENST00000265022.3	-	6	1053	c.514G>A	c.(514-516)Gag>Aag	p.E172K	DGKG_ENST00000382164.4_Missense_Mutation_p.E172K|DGKG_ENST00000344484.4_Missense_Mutation_p.E172K|DGKG_ENST00000544847.1_Missense_Mutation_p.E172K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	172					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTCCCCGTCTCCAGCAGGGAC	0.562000													42	76					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830125	23830125	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr4:23830125C>A	ENST00000264867.2	-	5	774	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	219					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGAGGAGGGTCATCGTTTGTG	0.463000													39	90					1.57019e-19	1.82632e-19	1	1	0
FAT4	79633	broad.mit.edu	37	4	126328072	126328072	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr4:126328072G>A	ENST00000394329.3	+	3	5358	c.5345G>A	c.(5344-5346)gGa>gAa	p.G1782E	FAT4_ENST00000335110.5_Missense_Mutation_p.G80E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1782	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCATTAGTGGAGCTGATGAT	0.448000													37	39					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139311566	139311566	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr9:139311566G>A	ENST00000371717.3	+	7	806	c.797G>A	c.(796-798)tGt>tAt	p.C266Y	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.C135Y	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	266					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CTGGTGGACTGTGCCCGGAAG	0.632000													16	26					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917867	65917867	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr15:65917867C>T	ENST00000261892.6	+	2	1736	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	SLC24A1_ENST00000546330.1_Silent_p.V483V|SLC24A1_ENST00000399033.4_Silent_p.V483V|SLC24A1_ENST00000339868.6_Silent_p.V483V|SLC24A1_ENST00000537259.1_Silent_p.V483V|SLC24A1_ENST00000544319.2_Silent_p.V483V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	483					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCCTGGGTGTCATCACAGACA	0.577000													21	74					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250490	35250490	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:35250490G>C	ENST00000329285.8	-	4	1589	c.1216C>G	c.(1216-1218)Cat>Gat	p.H406D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAGCGATGAGTAAAGGCC	0.473000													26	43					0	0	1	0	0
MXD1	4084	broad.mit.edu	37	2	70164457	70164457	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:70164457G>A	ENST00000264444.2	+	5	669	c.409G>A	c.(409-411)Ggc>Agc	p.G137S	MXD1_ENST00000540449.1_Missense_Mutation_p.G127S	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	137					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GGAGAAGCTGGGCATTGAGAG	0.577000													23	52					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200824	101200824	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr14:101200824G>A	ENST00000341267.4	+	5	985	c.743G>A	c.(742-744)cGc>cAc	p.R248H	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	248					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GTCAAGAAGCGCGCGCTGAGC	0.682000													7	46					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31019208	31019208	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr20:31019208T>G	ENST00000375687.4	+	9	1227	c.803T>G	c.(802-804)aTc>aGc	p.I268S	ASXL1_ENST00000306058.5_Missense_Mutation_p.I263S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CGTGCCCTGATCAACTCTCGG	0.517000			"""F, N, Mis"""		"""MDS, CMML"""								41	63					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354869	20354869	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:20354869C>T	ENST00000423676.3	-	10	912	c.849G>A	c.(847-849)caG>caA	p.Q283Q	LGALS9B_ENST00000324290.5_Silent_p.Q282Q			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	283	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGTTGTTGATCTGGGTGTTAC	0.587000													25	49					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48896788	48896788	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:48896788C>A	ENST00000315869.7	-	3	637	c.378G>T	c.(376-378)caG>caT	p.Q126H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	126					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTCCTGCTCCTGCGCCTGGG	0.657000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								10	12					2.17888e-05	2.20578e-05	1	1	0
C6orf136	221545	broad.mit.edu	37	6	30619094	30619094	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:30619094G>C	ENST00000293604.6	+	4	1351	c.1158G>C	c.(1156-1158)tgG>tgC	p.W386C	C6orf136_ENST00000376471.4_Missense_Mutation_p.W71C|C6orf136_ENST00000376473.5_Missense_Mutation_p.W205C|C6orf136_ENST00000528347.2_Missense_Mutation_p.W62C	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	205										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCTGGCCTGGAATTATTTTG	0.542000													147	396					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32855736	32855736	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:32855736G>T	ENST00000317907.4	+	2	466	c.235G>T	c.(235-237)Gat>Tat	p.D79Y		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	79							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AACATTCCTGGATTACTCAAC	0.333000													12	26					4.3838e-07	4.57926e-07	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110454287	110454287	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:110454287G>A	ENST00000260283.4	-	14	1874	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	ARHGAP20_ENST00000528829.1_Silent_p.N494N|ARHGAP20_ENST00000529591.1_Silent_p.N73N|ARHGAP20_ENST00000357139.3_Silent_p.N504N|ARHGAP20_ENST00000533353.1_Silent_p.N504N|ARHGAP20_ENST00000527598.1_Silent_p.N494N|ARHGAP20_ENST00000524756.1_Silent_p.N507N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	530	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTGTAAATTCGTTTTCTAGTT	0.393000													16	24					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													6	172					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805876	77805876	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr5:77805876G>A	ENST00000380345.2	-	4	836	c.161C>T	c.(160-162)cCg>cTg	p.P54L	LHFPL2_ENST00000515007.2_Missense_Mutation_p.P54L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	54						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GTAGGGCTCCGGGGAgccccc	0.711000													3	5					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173947722	173947722	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:173947722C>T	ENST00000367696.2	-	7	1357	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	RC3H1_ENST00000367694.2_Missense_Mutation_p.E336K|RC3H1_ENST00000258349.4_Missense_Mutation_p.E336K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	336					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATTGTTAGTTCCTGAACACTC	0.398000													16	47					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452661	100452661	+	Silent	SNP	A	A	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:100452661A>C	ENST00000279907.7	-	14	2606	c.2394T>G	c.(2392-2394)ccT>ccG	p.P798P	UHRF1BP1L_ENST00000545232.2_Silent_p.P448P	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	798										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTGACGAGGAAGGGGAAAATC	0.403000													43	67					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517468	158517468	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:158517468T>A	ENST00000302617.3	-	1	427	c.428A>T	c.(427-429)aAc>aTc	p.N143I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACAGAGCTGGTTGGTCATGAT	0.478000													12	39					0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714218	148714218	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:148714218G>A	ENST00000345003.4	+	3	573	c.273G>A	c.(271-273)tcG>tcA	p.S91S	GYG1_ENST00000484197.1_Silent_p.S91S|GYG1_ENST00000296048.6_Silent_p.S91S|GYG1_ENST00000483267.1_Silent_p.S91S	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	91					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACTGCTGGTCGCTTACACAGT	0.438000													43	56					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151542215	151542215	+	Missense_Mutation	SNP	G	G	T	rs148427914		TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:151542215G>T	ENST00000368849.3	+	7	625	c.563G>T	c.(562-564)cGg>cTg	p.R188L	TUFT1_ENST00000368848.2_Missense_Mutation_p.R163L|TUFT1_ENST00000538902.1_Missense_Mutation_p.R207L|TUFT1_ENST00000392712.3_Missense_Mutation_p.R133L|TUFT1_ENST00000353024.3_Missense_Mutation_p.R129L	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	188					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGCCAAGCGGCAACACCAG	0.532000													51	118					9.22156e-22	1.08024e-21	1	1	0
SLC38A7	55238	broad.mit.edu	37	16	58701213	58701213	+	Silent	SNP	A	A	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr16:58701213A>T	ENST00000564100.1	-	8	1929	c.1062T>A	c.(1060-1062)tcT>tcA	p.S354S	SLC38A7_ENST00000570101.1_3'UTR|SLC38A7_ENST00000219320.4_3'UTR			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	0					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TCGTGGACTAAGAATGGCCCC	0.542000													6	21					0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45113961	45113961	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:45113961C>G	ENST00000381112.3	+	9	1750	c.1071C>G	c.(1069-1071)atC>atG	p.I357M	CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Missense_Mutation_p.I245M|CCM2_ENST00000474617.1_Missense_Mutation_p.I239M|CCM2_ENST00000258781.6_Missense_Mutation_p.I336M|CCM2_ENST00000541586.1_Missense_Mutation_p.I278M|CCM2_ENST00000475551.1_Missense_Mutation_p.I330M	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	336					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTTCTGCATCAACCTGCGGC	0.592000													14	27					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39622368	39622368	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:39622368C>G	ENST00000225899.3	-	2	632	c.529G>C	c.(529-531)Gct>Cct	p.A177P		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	177	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TCATCGGCAGCCAGTTTGGCA	0.532000													23	24					0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416578	144416578	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:144416578G>A	ENST00000367569.2	-	1	176	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	19					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGCCCGTGCCGATGTACTTGG	0.592000													8	33					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16945971	16945971	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr10:16945971A>C	ENST00000377833.4	-	51	8121	c.8056T>G	c.(8056-8058)Ttt>Gtt	p.F2686V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2686	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACCTGTAAAGGAATACTTT	0.279000													11	16					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126791097	126791097	+	Silent	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr5:126791097G>T	ENST00000274473.6	+	25	3297	c.3030G>T	c.(3028-3030)ctG>ctT	p.L1010L	MEGF10_ENST00000503335.2_Silent_p.L1010L|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1010	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCACAGACCTGGGAAAGAATT	0.388000													52	70					3.31993e-32	3.94542e-32	1	1	0
TBX3	6926	broad.mit.edu	37	12	115112401	115112401	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:115112401G>C	ENST00000349155.2	-	6	2242	c.1279C>G	c.(1279-1281)Cgc>Ggc	p.R427G	TBX3_ENST00000257566.3_Missense_Mutation_p.R447G	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	447					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCCAGGCCGCGAGTGCTGGAC	0.736000													3	9					0	0	1	0	0
CFL1	1072	broad.mit.edu	37	11	65623177	65623177	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:65623177C>T	ENST00000525451.2	-	4	1051	c.336G>A	c.(334-336)aaG>aaA	p.K112K	CFL1_ENST00000524553.1_Silent_p.K95K|CFL1_ENST00000308162.5_Silent_p.K112K|CFL1_ENST00000527344.1_Silent_p.K95K|CFL1_ENST00000534769.1_Silent_p.K150K|CFL1_ENST00000531413.1_Silent_p.K95K|CFL1_ENST00000531407.1_Silent_p.K95K			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	112	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TCATTTTGCTCTTAAGGGGCG	0.567000													25	104					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495610	56495610	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:56495610G>A	ENST00000267101.3	+	28	4240	c.3800G>A	c.(3799-3801)cGa>cAa	p.R1267Q	ERBB3_ENST00000549832.1_Missense_Mutation_p.R387Q|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1208Q|ERBB3_ENST00000450146.2_Missense_Mutation_p.R624Q|ERBB3_ENST00000553131.1_Missense_Mutation_p.R508Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1267					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATCGGCAACGAGATGGAGGT	0.547000													21	95					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104497498	104497498	+	Silent	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr10:104497498C>G	ENST00000369893.5	+	12	1115	c.948C>G	c.(946-948)gtC>gtG	p.V316V		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGCCTTATGTCTACTTCAATA	0.458000													25	39					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25606472	25606472	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:25606472C>T	ENST00000329474.6	+	35	4186	c.3818C>T	c.(3817-3819)cCg>cTg	p.P1273L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1273					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCGTCATCCCGCAGAAACCA	0.607000													8	23					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647000													18	76					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897188	130897188	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:130897188G>A	ENST00000261655.4	-	15	2960	c.2797C>T	c.(2797-2799)Ctg>Ttg	p.L933L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	933						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGTGTATTCAGAGGGAGAAAG	0.502000													19	52					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086464	27086464	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:27086464C>T	ENST00000341217.5	-	3	728	c.513G>A	c.(511-513)acG>acA	p.T171T	FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.T171T|FAM222B_ENST00000581407.1_Silent_p.T171T|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	171	Gln-rich.																GGTGCTGCAGCGTCTGGGGAG	0.701000													3	18					0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48266789	48266789	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:48266789A>G	ENST00000296435.2	+	4	553	c.397A>G	c.(397-399)Aag>Gag	p.K133E	CAMP_ENST00000576243.1_Missense_Mutation_p.K130E	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	130					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGGATAACAAGAGATTTGC	0.478000													65	131					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42922314	42922314	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:42922314C>T	ENST00000372561.3	+	1	85	c.78C>T	c.(76-78)ttC>ttT	p.F26F	PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372560.3_Silent_p.F26F|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	26					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGCTCGCTTCGCGGCCAGGC	0.706000													6	9					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110768177	110768177	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:110768177C>T	ENST00000368919.3	-	3	616	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.V184I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V150I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	184					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCCCACAAGACCACCCGGCGT	0.443000													13	23					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23345175	23345175	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr14:23345175G>A	ENST00000359591.4	+	5	1709	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	LRP10_ENST00000546834.1_Missense_Mutation_p.G340S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	340	LDL-receptor class A 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCGCTGTGACGGCTCATGGGA	0.642000													17	29					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200462	100200462	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:100200462G>A	ENST00000547776.2	-	4	388	c.389C>T	c.(388-390)aCt>aTt	p.T130I	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.T130I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	130						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGTAGGGCAGTTTCATTTTC	0.353000													11	22					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93101858	93101858	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:93101858C>T	ENST00000370331.1	-	12	1389	c.1380G>A	c.(1378-1380)gtG>gtA	p.V460V	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.V471V|EVI5_ENST00000540033.1_Silent_p.V460V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	460	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CTAGCTGTAGCACAAAATCTT	0.368000													27	75					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20786633	20786633	+	Silent	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:20786633C>A	ENST00000359062.3	+	7	1807	c.1767C>A	c.(1765-1767)ggC>ggA	p.G589G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	589					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTAGCTGTGGCAGACCATATT	0.418000													7	8					2.0095e-06	2.07269e-06	1	1	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233344	125233344	+	RNA	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:125233344G>A	ENST00000439075.1	-	0	1401					NR_026876.1																						CATATCCCATGCCAGACACTC	0.363000													13	16					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183442264	183442264	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:183442264G>A	ENST00000305135.5	+	6	790	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	199					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGATCTCACAGATGAGACTTC	0.343000													8	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640861	179640861	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:179640861C>T	ENST00000589042.1	-	28	5954	c.5730G>A	c.(5728-5730)gtG>gtA	p.V1910V	TTN_ENST00000360870.5_Silent_p.V1910V|TTN_ENST00000359218.5_Silent_p.V1864V|TTN_ENST00000460472.2_Silent_p.V1864V|TTN_ENST00000342992.6_Silent_p.V1910V|TTN_ENST00000342175.6_Silent_p.V1864V|TTN_ENST00000591111.1_Silent_p.V1910V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1628	Ig-like 9.						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)			CGGTGACCTTCACTTCACCTG	0.458000													24	92					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43308816	43308816	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:43308816G>A	ENST00000328249.3	+	9	2109	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P	RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372514.3_Silent_p.P447P|ERMAP_ENST00000372517.2_Silent_p.P447P|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	447	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACTACCCCCGAAGGCCCCAG	0.512000													33	64					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117098	37117098	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:37117098C>A	ENST00000435416.1	+	3	1791	c.296C>A	c.(295-297)cCc>cAc	p.P99H	ZNF382_ENST00000292928.2_Missense_Mutation_p.P100H|ZNF382_ENST00000423582.1_Missense_Mutation_p.P51H|ZNF382_ENST00000439428.1_Missense_Mutation_p.P99H			Q96SR6	ZN382_HUMAN	zinc finger protein 382	100	Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCTAGACCCCTCATATTC	0.333000													25	49					1.66031e-10	1.865e-10	1	1	0
C11orf48	79081	broad.mit.edu	37	11	62430726	62430726	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:62430726C>G	ENST00000431002.2	-	4	2554	c.821G>C	c.(820-822)aGa>aCa	p.R274T	C11orf48_ENST00000532208.1_Missense_Mutation_p.R248T|RP11-831H9.11_ENST00000528405.1_Missense_Mutation_p.E82Q|C11orf48_ENST00000354588.3_Missense_Mutation_p.R248T|C11orf48_ENST00000524958.1_Missense_Mutation_p.E82Q|C11orf48_ENST00000525675.1_Missense_Mutation_p.E82Q			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	274										endometrium(1)|lung(5)|urinary_tract(1)	7						GCTGTCTTCTCTTTCTGGGCA	0.502000													21	50					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918749	16918749	+	Silent	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:16918749C>G	ENST00000524140.2	+	18	4507	c.4089C>G	c.(4087-4089)gtC>gtG	p.V1363V	NWD1_ENST00000552788.1_Silent_p.V1363V|NWD1_ENST00000549814.1_Silent_p.V1321V|NWD1_ENST00000523826.1_Silent_p.V1157V|NWD1_ENST00000339803.6_Silent_p.V1228V|NWD1_ENST00000379808.3_Silent_p.V1363V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1363							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCGCGTGGTCTACAGCATGA	0.577000													57	111					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846528	98846528	+	Silent	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:98846528C>A	ENST00000477737.1	+	16	2370	c.2166C>A	c.(2164-2166)atC>atA	p.I722I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	722										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAAGGAAATCTGTTCTATGA	0.373000													19	57					2.94398e-08	3.1764e-08	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27100390	27100390	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:27100390G>A	ENST00000324856.7	+	17	4472		c.e17+1		ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAACAGCAGGTGAGGAGGGT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								32	34					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94316728	94316728	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:94316728T>C	ENST00000299001.6	+	5	839	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	210					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATATCATCTTCAGAAAGTA	0.408000													45	94					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201016693	201016693	+	Silent	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:201016693G>T	ENST00000362061.3	-	37	4729	c.4503C>A	c.(4501-4503)acC>acA	p.T1501T	CACNA1S_ENST00000367338.3_Silent_p.T1482T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1501					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCTTCATGCTGGTTCTCTTCC	0.537000													21	54					5.35356e-11	6.05506e-11	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98575861	98575861	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:98575861G>A	ENST00000359863.4	+	56	8601	c.8392G>A	c.(8392-8394)Gat>Aat	p.D2798N	TRRAP_ENST00000446306.3_Missense_Mutation_p.D2780N|TRRAP_ENST00000355540.3_Missense_Mutation_p.D2780N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2798	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGGCAATGGATAAAGCCAA	0.368000													36	79					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104018760	104018760	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr10:104018760G>A	ENST00000369983.3	+	2	325	c.65G>A	c.(64-66)cGa>cAa	p.R22Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	22					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCCATCAAACGAAATGCCCGA	0.413000													42	84					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46216164	46216164	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:46216164G>A	ENST00000317683.3	-	2	723	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	197							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GACTACAGGCGCTGGGGTGGT	0.687000													5	9					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139609977	139609977	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:139609977G>T	ENST00000358430.3	-	2	292	c.60C>A	c.(58-60)gaC>gaA	p.D20E		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	20						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATGATGAACTGTCACCTGGAG	0.512000													14	50					9.31168e-06	9.48519e-06	1	1	0
NR1H3	10062	broad.mit.edu	37	11	47282943	47282943	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:47282943C>T	ENST00000467728.1	+	4	1889	c.651C>T	c.(649-651)ctC>ctT	p.L217L	NR1H3_ENST00000395397.3_Silent_p.L172L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Silent_p.L172L|NR1H3_ENST00000481889.2_Silent_p.L172L|NR1H3_ENST00000407404.1_Silent_p.L217L|NR1H3_ENST00000527949.1_Silent_p.L126L|NR1H3_ENST00000405853.3_Silent_p.L217L|NR1H3_ENST00000441012.2_Silent_p.L217L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	217	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCGAGAAGCTCGTCGCTGCCC	0.627000													17	53					0	0	1	0	0
YWHAZ	7534	broad.mit.edu	37	8	101960935	101960935	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr8:101960935G>A	ENST00000395957.2	-	3	524	c.183C>T	c.(181-183)gtC>gtT	p.V61V	YWHAZ_ENST00000395958.2_Silent_p.V61V|YWHAZ_ENST00000353245.3_Silent_p.V61V|YWHAZ_ENST00000419477.2_Silent_p.V61V|YWHAZ_ENST00000395956.3_Silent_p.V61V|YWHAZ_ENST00000395953.2_Silent_p.V61V|YWHAZ_ENST00000395951.3_Silent_p.V61V|YWHAZ_ENST00000457309.1_Silent_p.V61V|YWHAZ_ENST00000395948.2_5'UTR|YWHAZ_ENST00000521309.1_Intron			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	61					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TACTTGAGACGACCCTCCAAG	0.433000													51	569					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745876	77745876	+	Silent	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:77745876C>A	ENST00000409088.3	-	3	1533	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	LRRTM4_ENST00000409093.1_Silent_p.L373L|LRRTM4_ENST00000409282.1_Silent_p.L374L|LRRTM4_ENST00000409884.1_Silent_p.L373L|LRRTM4_ENST00000409911.1_Silent_p.L374L	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	373						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTTGGGGCACCAGGTGTGATC	0.488000													11	18					7.03913e-09	7.69611e-09	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124755144	124755144	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:124755144C>T	ENST00000306534.3	-	17	3280		c.e17-1		RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Splice_Site	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)						angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGAGGCATCTGTCAGGGAG	0.592000													7	28					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41568577	41568577	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr22:41568577G>T	ENST00000263253.7	+	28	5746	c.4527G>T	c.(4525-4527)tgG>tgT	p.W1509C	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1509					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTGATTTCTGGCCCAATGTTC	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				27	49					5.45727e-16	6.25869e-16	1	1	0
ZNF599	148103	broad.mit.edu	37	19	35249979	35249979	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:35249979G>A	ENST00000329285.8	-	4	2100	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGTGAACGATGAACTGTGGCT	0.413000													41	83					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398433	126398433	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr4:126398433C>T	ENST00000394329.3	+	13	12430	c.12417C>T	c.(12415-12417)gtC>gtT	p.V4139V	FAT4_ENST00000335110.5_Silent_p.V2402V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4139	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTTTGCAGTCAATGGAAGGC	0.423000													44	54					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511456	242511456	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:242511456C>T	ENST00000536534.2	-	2	519	c.278G>A	c.(277-279)gGa>gAa	p.G93E	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.G31E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTCATCCTCTCCCATGATGTC	0.453000													33	74					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11101608	11101608	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:11101608G>A	ENST00000403050.3	+	16	3002	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	PHF14_ENST00000445996.2_Silent_p.E565E	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	850							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTCCTAGAGAGAGAAGACAAA	0.358000													6	8					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154965204	154965204	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:154965204G>C	ENST00000292180.3	+	6	1892	c.1570G>C	c.(1570-1572)Gac>Cac	p.D524H	FLAD1_ENST00000368432.1_Missense_Mutation_p.D427H|FLAD1_ENST00000368428.1_Missense_Mutation_p.D65H|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.D427H	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	524	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACCTACAGAGACATCTGGGA	0.502000													32	82					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32761640	32761640	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:32761640A>G	ENST00000328834.5	+	8	1095	c.779A>G	c.(778-780)gAg>gGg	p.E260G	CNOT10_ENST00000538368.1_Missense_Mutation_p.E32G|CNOT10_ENST00000454516.2_Missense_Mutation_p.E320G|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.E260G	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	260					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGCAATTTTGAGTACTTAAGA	0.318000													38	75					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35619479	35619479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr13:35619479C>T	ENST00000540320.1	+	4	1198	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q222*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q222*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q222*			Q8NFP9	NBEA_HUMAN	neurobeachin	222						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.Q222*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTCTTAATCAGATGCCACA	0.323000													3	10					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													3	46					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129532	99129532	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:99129532G>A	ENST00000394170.2	+	7	2431	c.2180G>A	c.(2179-2181)gGt>gAt	p.G727D	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.G727D|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.G727D	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	727					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCCTTTGGTTATAGCTCA	0.413000													40	77					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61597522	61597522	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:61597522C>G	ENST00000398571.2	-	10	1261	c.1185G>C	c.(1183-1185)ttG>ttC	p.L395F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	395					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCAAAAAATTCAAAATCACTT	0.328000													28	109					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250691	35250691	+	Missense_Mutation	SNP	A	A	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:35250691A>T	ENST00000329285.8	-	4	1388	c.1015T>A	c.(1015-1017)Tat>Aat	p.Y339N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y339fs*1(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCGCACTCATAGAGTTTCTTT	0.413000													19	24					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994565	144994565	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr8:144994565C>T	ENST00000322810.4	-	32	10004	c.9835G>A	c.(9835-9837)Ggc>Agc	p.G3279S	PLEC_ENST00000398774.2_Missense_Mutation_p.G3110S|PLEC_ENST00000345136.3_Missense_Mutation_p.G3142S|PLEC_ENST00000357649.2_Missense_Mutation_p.G3146S|PLEC_ENST00000354589.3_Missense_Mutation_p.G3142S|PLEC_ENST00000354958.2_Missense_Mutation_p.G3120S|PLEC_ENST00000527096.1_Missense_Mutation_p.G3165S|PLEC_ENST00000356346.3_Missense_Mutation_p.G3128S|PLEC_ENST00000436759.2_Missense_Mutation_p.G3169S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3279	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCACGATGCCGCCCGTGGAC	0.692000													8	16					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93979266	93979266	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:93979266G>C	ENST00000369303.4	-	7	1746	c.1562C>G	c.(1561-1563)gCt>gGt	p.A521G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	521	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCCATAACCAGCAGCAGTAAA	0.408000													10	64					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	52					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39934052	39934052	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:39934052C>T	ENST00000342274.4	-	4	909	c.547G>A	c.(547-549)Ggt>Agt	p.G183S	BCOR_ENST00000397354.3_Missense_Mutation_p.G183S|BCOR_ENST00000378444.4_Missense_Mutation_p.G183S|BCOR_ENST00000378455.4_Missense_Mutation_p.G183S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	183					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAACTAGCACCATTGATGTTG	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						41	52					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519717	113519717	+	Missense_Mutation	SNP	A	A	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:113519717A>T	ENST00000284601.3	-	4	1498	c.1430T>A	c.(1429-1431)aTt>aAt	p.I477N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	477					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTACTTCAATATTTTTAGC	0.393000													26	56					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654541	150654541	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:150654541G>A	ENST00000392968.2	-	3	1798	c.678C>T	c.(676-678)tcC>tcT	p.S226S	KCNH2_ENST00000262186.5_Silent_p.S322S|KCNH2_ENST00000430723.3_Silent_p.S322S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	322					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCACGAGGTCGGAGTCCGAGG	0.642000													18	8					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110110855	110110855	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:110110855G>A	ENST00000230124.3	+	19	2279	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	FIG4_ENST00000441478.2_Missense_Mutation_p.D442N	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	719					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCGTAAACCAGATGAAACTGG	0.338000													6	32					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10353809	10353809	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:10353809G>A	ENST00000255381.2	-	30	4252	c.4142C>T	c.(4141-4143)aCg>aTg	p.T1381M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1381					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GATGGCGTCCGTCTCGTACTT	0.542000													14	119					0	0	1	0	0
YEATS4	8089	broad.mit.edu	37	12	69759433	69759433	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:69759433G>T	ENST00000247843.2	+	3	462	c.192G>T	c.(190-192)aaG>aaT	p.K64N	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	64	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CATATGTGAAGAAAATCCAGT	0.289000													53	183					1.67886e-27	1.98081e-27	1	1	0
UBXN7	26043	broad.mit.edu	37	3	196095002	196095002	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:196095002T>C	ENST00000296328.4	-	8	805	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	UBXN7_ENST00000428095.1_Missense_Mutation_p.Q82R|UBXN7_ENST00000535858.1_Missense_Mutation_p.Q96R	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	244							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TACATCTAACTGGTGCCATTC	0.393000													17	60					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113172514	113172514	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:113172514G>A	ENST00000295872.4	-	14	2200	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	647					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCAGTACTGGGAGCTCTTCTG	0.443000													16	96					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524618	35524618	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:35524618G>A	ENST00000262631.5	+	3	560	c.423G>A	c.(421-423)aaG>aaA	p.K141K	SCN1B_ENST00000415950.3_Silent_p.K141K|SCN1B_ENST00000595652.1_Silent_p.K70K|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	141	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGTCAAGAAGATCCACATTG	0.572000													27	60					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227631	74227631	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:74227631G>C	ENST00000316292.9	-	7	2282	c.1291C>G	c.(1291-1293)Cag>Gag	p.Q431E	EEF1A1_ENST00000331523.2_Missense_Mutation_p.Q431E|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.Q431E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	431						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCAACTGTCTGTCTCATATCA	0.403000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	58					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15811165	15811165	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr16:15811165G>A	ENST00000452625.2	-	39	5444	c.5357C>T	c.(5356-5358)aCg>aTg	p.T1786M	MYH11_ENST00000396324.3_Missense_Mutation_p.T1786M|MYH11_ENST00000300036.5_Missense_Mutation_p.T1779M|MYH11_ENST00000576790.2_Missense_Mutation_p.T1779M|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1779				A -> S (in Ref. 5; CAA49154).	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCTGGGCCGTGCTGCGCTC	0.642000			T	CBFB	AML								19	90					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069542	114069542	+	Silent	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:114069542C>T	ENST00000462705.1	-	11	1985	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	ZBTB20_ENST00000474710.1_Silent_p.S461S|ZBTB20_ENST00000464560.1_Silent_p.S388S|ZBTB20_ENST00000471418.1_Silent_p.S388S|ZBTB20_ENST00000393785.2_Silent_p.S388S|ZBTB20_ENST00000481632.1_Silent_p.S388S|ZBTB20_ENST00000357258.3_Silent_p.S388S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGTGTTGACCGAAGGCTGTT	0.547000													33	56					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124605	102124605	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:102124605G>C	ENST00000369138.1	+	4	1139	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	GRIK2_ENST00000369134.4_Missense_Mutation_p.E168Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.E217Q|GRIK2_ENST00000421544.1_Missense_Mutation_p.E217Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.E217Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.E217Q|GRIK2_ENST00000358361.3_Missense_Mutation_p.E217Q	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	217					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E217*(2)|p.E217K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTACTAAAAGAAATGAAAAG	0.363000													8	45					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066403	70066403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr4:70066403G>A	ENST00000446444.1	-	6	1353	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	449					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGATCATGTTGAATTCTTGAT	0.378000													49	105					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984508	158984508	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:158984508G>T	ENST00000295809.7	+	2	293	c.38G>T	c.(37-39)gGa>gTa	p.G13V	IFI16_ENST00000448393.2_Missense_Mutation_p.G13V|IFI16_ENST00000368131.4_Missense_Mutation_p.G13V|IFI16_ENST00000359709.3_Missense_Mutation_p.G13V|IFI16_ENST00000340979.6_Missense_Mutation_p.G13V|IFI16_ENST00000430894.2_Missense_Mutation_p.G17V|IFI16_ENST00000368132.3_Missense_Mutation_p.G13V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	13	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTACTAAAAGGATTAGAGGTC	0.299000													20	53					5.03518e-11	5.73451e-11	1	1	0
NOM1	64434	broad.mit.edu	37	7	156756610	156756610	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:156756610G>C	ENST00000275820.3	+	7	1938	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	641					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCAGTTCAAAGATCCTAGAAC	0.453000													14	21					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132249157	132249157	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr12:132249157C>T	ENST00000261674.4	+	12	2018	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	SFSWAP_ENST00000541286.1_Missense_Mutation_p.A626V	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	626					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						ACTAACCCAGCAGTTGCCCCA	0.428000													11	60					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640778	156640778	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:156640778C>T	ENST00000368223.3	-	4	3334	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1068	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACATCATCTTCCACCAGGGGC	0.677000													16	39					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196675227	196675227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:196675227C>A	ENST00000412723.1	-	3	687	c.541G>T	c.(541-543)Gag>Tag	p.E181*	PIGZ_ENST00000443835.1_Missense_Mutation_p.L77F	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	181					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGAGTCCCTCAATGGTGTTG	0.652000													24	69					1.9806e-07	2.08217e-07	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71021818	71021818	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:71021818G>A	ENST00000318789.4	-	18	2065	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	FOXP1_ENST00000491238.1_Missense_Mutation_p.R516C|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Missense_Mutation_p.R513C|FOXP1_ENST00000475937.1_Missense_Mutation_p.R514C|FOXP1_ENST00000484350.1_Missense_Mutation_p.R438C|FOXP1_ENST00000498215.1_Missense_Mutation_p.R514C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	514					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.R514C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGATTATGACGCACTGCATTC	0.383000			T	PAX5	ALL								26	24					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52193023	52193023	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr20:52193023C>A	ENST00000371471.2	-	4	2705	c.2280G>T	c.(2278-2280)ttG>ttT	p.L760F	ZNF217_ENST00000302342.3_Missense_Mutation_p.L760F			O75362	ZN217_HUMAN	zinc finger protein 217	760					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)			CTTTTCCCAGCAACGCTGGCG	0.522000													20	130					4.96729e-08	5.28984e-08	1	1	0
SFXN2	118980	broad.mit.edu	37	10	104497516	104497516	+	Silent	SNP	C	C	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr10:104497516C>G	ENST00000369893.5	+	12	1133	c.966C>G	c.(964-966)ctC>ctG	p.L322L		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATAAGGGTCTCTAAATGCCCC	0.478000													17	33					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1918079	1918079	+	Silent	SNP	G	G	A	rs143207818	byFrequency	TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr20:1918079G>A	ENST00000358771.4	+	8	1532	c.1380G>A	c.(1378-1380)ccG>ccA	p.P460P	SIRPA_ENST00000356025.3_Silent_p.P460P|SIRPA_ENST00000400068.3_Silent_p.P464P	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	460			P -> L.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGACCAGCCCGCAGCCCGCGT	0.637000													32	48					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522352	144522352	+	Missense_Mutation	SNP	A	A	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr8:144522352A>T	ENST00000262577.5	-	11	2705	c.2674T>A	c.(2674-2676)Tct>Act	p.S892T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	892					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCCTGGAGAGATGGTGCCTCG	0.652000													7	13					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745875	77745875	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:77745875C>A	ENST00000409088.3	-	3	1534	c.1120G>T	c.(1120-1122)Gtg>Ttg	p.V374L	LRRTM4_ENST00000409093.1_Missense_Mutation_p.V374L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.V375L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V374L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.V375L	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	374						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGGGGCACCAGGTGTGAT	0.488000													11	18					7.03913e-09	7.69611e-09	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38888782	38888782	+	Silent	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:38888782G>C	ENST00000450244.1	-	26	4977	c.4779C>G	c.(4777-4779)ctC>ctG	p.L1593L	SCN11A_ENST00000456224.3_Silent_p.L1555L|SCN11A_ENST00000302328.3_Silent_p.L1593L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1593					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGACAACAATGAGAAAGGAGA	0.403000													25	48					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31950195	31950195	+	Splice_Site	SNP	A	A	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:31950195A>T	ENST00000357033.4	-	46	6969		c.e46+1		DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000359836.1_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATAAAATTACCTTGACTTG	0.358000													13	60					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89257807	89257807	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr16:89257807G>C	ENST00000289746.2	+	9	1367	c.1302G>C	c.(1300-1302)caG>caC	p.Q434H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	434	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCCAGACCCAGCACGTGCTCA	0.672000													19	53					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79657758	79657758	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:79657758G>T	ENST00000329138.4	+	7	658	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	175					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCAGTTCGGGGTGATGACCCG	0.682000													22	86					3.7963e-18	4.38446e-18	1	1	0
LRRC18	474354	broad.mit.edu	37	10	50121828	50121828	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr10:50121828C>T	ENST00000374160.3	-	1	449	c.373G>A	c.(373-375)Gct>Act	p.A125T	WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.A125T|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	125						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTCACAGCGCGGATGTTC	0.592000													10	31					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021430	32021430	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:32021430G>A	ENST00000375244.3	-	25	8727	c.8526C>T	c.(8524-8526)ccC>ccT	p.P2842P	TNXB_ENST00000375247.2_Silent_p.P2840P			P22105	TENX_HUMAN	tenascin XB	2889	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCTTGTTGGGGGGCTCAG	0.637000													38	35					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76854912	76854912	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:76854912T>G	ENST00000373344.5	-	25	6138	c.5924A>C	c.(5923-5925)aAc>aCc	p.N1975T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1937T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1975					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAAGGATTGTTTCCTGTTTC	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						49	537					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48445992	48445992	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:48445992G>A	ENST00000358536.4	-	38	6578	c.6309C>T	c.(6307-6309)atC>atT	p.I2103I	PLXNB1_ENST00000456774.1_Silent_p.I1920I|PLXNB1_ENST00000358459.4_Silent_p.I1920I|PLXNB1_ENST00000296440.6_Silent_p.I2103I|PLXNB1_ENST00000448774.2_Silent_p.I714I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2103					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGGCAGTGATGATCTGAA	0.532000													5	16					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94316737	94316737	+	Splice_Site	SNP	T	T	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr11:94316737T>C	ENST00000299001.6	+	5	846		c.e5+2		RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTCAGAAAGTAAGGCACTGG	0.423000													44	83					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203331	140203331	+	Silent	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr5:140203331G>A	ENST00000529859.1	+	1	1971	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P657P|PCDHA5_ENST00000378126.3_Silent_p.P657P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGCCCCCGCTGACAGCCA	0.672000													38	38					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159682271	159682271	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr6:159682271A>C	ENST00000297267.9	+	19	5424	c.5224A>C	c.(5224-5226)Agc>Cgc	p.S1742R	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1679R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1742	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGACCTATCAGCCCTTCGGT	0.348000													8	45					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332367	107332367	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr9:107332367G>A	ENST00000335040.1	+	1	919	c.919G>A	c.(919-921)Gtc>Atc	p.V307I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGCTGCTGTCAAAAACAT	0.373000													14	49					0	0	1	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328190	21328190	+	RNA	SNP	G	G	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr16:21328190G>A	ENST00000444326.1	+	0	306																											TAGAGGCGGCGATGTATTGCT	0.338000													51	99					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26888628	26888628	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:26888628C>T	ENST00000308360.7	-	6	863	c.488G>A	c.(487-489)gGg>gAg	p.G163E	PIGS_ENST00000395346.2_Missense_Mutation_p.G155E|PIGS_ENST00000543734.1_Missense_Mutation_p.G102E|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	163					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCTCTTGGGCCCAATGTAGCT	0.552000													5	13					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36338756	36338756	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:36338756C>T	ENST00000242108.4	+	8	2369	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	EEPD1_ENST00000534978.1_Missense_Mutation_p.R551W	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	551					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGATGCCCCTCGGAACGGCAG	0.587000													15	19					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	29					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416603	48416603	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr10:48416603C>A	ENST00000249598.1	-	1	250	c.91G>T	c.(91-93)Ggg>Tgg	p.G31W		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	31					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCAGCAGACCCTCGTCCCCAG	0.647000													14	28					1.05317e-09	1.17497e-09	1	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000													3	24					0.004672	0.00470066	1	1	0
PEX19	5824	broad.mit.edu	37	1	160252819	160252819	+	Frame_Shift_Del	DEL	G	G	-	rs146644725	byFrequency	TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr1:160252819delG	ENST00000368072.5	-	3	282	c.261delC	c.(259-261)ttcfs	p.F87fs	PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19									p.F87F(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCCTTCTCGAACTCCGCAG	0.567													24	33	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	13						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													7	64	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149506262	149506262	+	RNA	DEL	T	T	-			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr7:149506262delT	ENST00000378016.2	+	0	9250							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGCGCAGGTGAGGCCTGCC	0.657													6	8	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84609799	84609799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr9:84609799delA	ENST00000344803.2	+	4	4461	c.4414delA	c.(4414-4416)aaafs	p.K1472fs		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GACACGTACCAAATCTTGCAG	0.502													16	35	---	---	---	---					
KHSRP	8570	broad.mit.edu	37	19	6415898	6415898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:6415898delC	ENST00000398148.3	-	16	1700	c.1608delG	c.(1606-1608)gggfs	p.G536fs		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	536	Ala/Gly/Pro-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GAGGAGGGGGCCCCCCGGCAC	0.662													2	4	---	---	---	---					
MAP1S	55201	broad.mit.edu	37	19	17844126	17844127	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr19:17844126_17844127delGC	ENST00000324096.4	+	6	3064_3065	c.2913_2914delGC	c.(2911-2916)gtgcgcfs	p.R972fs	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.R946fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	972	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				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						TCCAGCGCGTGCGCGCGCTCTG	0.673													7	5	---	---	---	---					
TUBGCP6	85378	broad.mit.edu	37	22	50658162	50658163	+	Frame_Shift_Ins	INS	-	-	CC	rs146983255		TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chr22:50658162_50658163insCC	ENST00000439308.2	-	18	4776_4777	c.4284_4285insGG	c.(4282-4287)cggcggfs	p.R1429fs	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Frame_Shift_Ins_p.A1409fs	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	0					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGAGCCTCCGCCGCCGATGCC	0.649													25	30	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-2F-A9KW-01A-11D-A38G-08	TCGA-2F-A9KW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84504382-2f05-4a30-82a6-8f60599abe40	e93eb9c6-b20c-4560-82fc-1aac0deffffa	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													8	236	---	---	---	---					
