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
ABCA13	154664	broad.mit.edu	37	7	48319048	48319048	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:48319048G>A	uc003toq.2	+	17	8281	c.8257G>A	c.(8257-8259)Gat>Aat	p.D2753N	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2753					transport	integral to membrane	ATP binding|ATPase activity	p.I2752>?(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTAAAGAAAGATAATTGGAA	0.323000													93	369					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150459921	150459921	+	Splice_Site	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:150459921A>G	uc001euq.3	+	1	1	c.-6_splice	c.e1-1		TARS2_uc010pcd.1_Splice_Site|TARS2_uc001eur.3_Splice_Site|TARS2_uc009wlt.3_Splice_Site|TARS2_uc009wls.3_Splice_Site	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.						threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACTGGTGTGAAGGAACATGGC	0.537000													28	77					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286732	57286732	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:57286732C>T	uc002qnr.2	-	10	1290	c.908G>A	c.(907-909)gGa>gAa	p.G303E	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.G99E|PEG3_uc010ygq.1_Missense_Mutation_p.G99E|PEG3_uc010etp.2_Missense_Mutation_p.G303E|PEG3_uc010ygs.1_Missense_Mutation_p.G303E|PEG3_uc002qnq.2_Missense_Mutation_p.G303E	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	453					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGGATCCTTTCCTAGAGGATC	0.453000													19	59					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:208257763G>A	uc001hgz.3	-	9	3018	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	754					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTGAAGCGCAGAGCGGGG	0.622000													3	53					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103618	53103618	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:53103618A>C	uc003tpz.3	+	0	270	c.254A>C	c.(253-255)gAc>gCc	p.D85A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	85										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCCAGGACCCCGCCAAG	0.711000													6	69					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912897	32912897	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr13:32912897G>T	uc001uub.1	+	10	4632	c.4405G>T	c.(4405-4407)Gac>Tac	p.D1469Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1469					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.S1468F(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTACATTCTGACATAAGAAA	0.303000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			81	207					8.6838e-40	1.0194e-39	1	1	0
FBF1	85302	broad.mit.edu	37	17	73916511	73916511	+	Splice_Site	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:73916511C>A	uc002jqc.3	-	17	1904	c.1630_splice	c.e17-1	p.P544_splice	FBF1_uc002jqa.1_Splice_Site|FBF1_uc010wsp.2_Splice_Site_p.P535_splice|FBF1_uc002jqd.1_Splice_Site_p.P545_splice|FBF1_uc002jqb.3_5'Flank|FBF1_uc010dgr.2_Splice_Site	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	544										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGAGCAGGGGCTGGAGGAGAG	0.632000													3	84					0.115264	0.117756	1	1	0
FAM13A	10144	broad.mit.edu	37	4	89658657	89658657	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:89658657T>A	uc003hse.1	-	20	2820	c.2612A>T	c.(2611-2613)gAg>gTg	p.E871V	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Missense_Mutation_p.E545V|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Missense_Mutation_p.E531V|FAM13A_uc011cdq.1_Missense_Mutation_p.E517V|FAM13A_uc003hsf.1_Missense_Mutation_p.E457V|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	871					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTTTCGCCCTCGATAATTGG	0.542000													22	48					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607787	46607787	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:46607787C>G	uc002ruv.3	+	11	2486	c.1976C>G	c.(1975-1977)aCa>aGa	p.T659R	EPAS1_uc002ruw.3_Missense_Mutation_p.T125R	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	659					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GATCAGCGCACAGAGTTCTTG	0.592000													16	51					0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168349	74168349	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:74168349T>A	uc021qng.1	-	0	260	c.260A>T	c.(259-261)aAg>aTg	p.K87M	KCNE3_uc001ovc.3_Missense_Mutation_p.K87M|KCNE3_uc001ovd.2_Missense_Mutation_p.K87M	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	87						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GTCACTACGCTTGTCCACTTT	0.498000													17	59					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922694	8922694	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:8922694A>G	uc002mkn.1	-	5	702	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L	ZNF558_uc010xkh.1_Missense_Mutation_p.F87L|ZNF558_uc010dwg.1_Missense_Mutation_p.F158L	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AAGACTTTAAAACACTGATTA	0.338000													9	58					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983631	223983631	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:223983631C>A	uc001hod.3	-	13	3034	c.2223G>T	c.(2221-2223)gaG>gaT	p.E741D	TP53BP2_uc010pvb.2_Missense_Mutation_p.E870D|TP53BP2_uc010puz.2_Missense_Mutation_p.E103D|TP53BP2_uc010pva.2_Missense_Mutation_p.E509D	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	864					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGGGTACTCCTCCAGGTACA	0.572000													16	44					6.94344e-10	7.62971e-10	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88680721	88680721	+	Missense_Mutation	SNP	T	T	C	rs67471543		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:88680721T>C	uc002bme.2	-	6	842	c.536A>G	c.(535-537)gAg>gGg	p.E179G	NTRK3_uc002bmh.2_Missense_Mutation_p.E179G|NTRK3_uc002bmf.2_Missense_Mutation_p.E179G|NTRK3_uc021sua.1_Missense_Mutation_p.E179G|NTRK3_uc010upl.1_Missense_Mutation_p.E81G|NTRK3_uc010bnh.1_Missense_Mutation_p.E179G|NTRK3_uc002bmg.3_Missense_Mutation_p.E179G	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	179	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGCTTGGCCTCCCCCTGCTC	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	33					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130582297	130582297	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:130582297G>A	uc004bsj.4	-	8	1567	c.1154C>T	c.(1153-1155)aCg>aTg	p.T385M	ENG_uc011mam.2_Missense_Mutation_p.T196M|ENG_uc004bsk.4_Missense_Mutation_p.T385M|AK057719_uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	385	Ser/Thr-rich.				BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.T385T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGTCAGGCCCGTGATGGTGCA	0.607000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				6	28					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52660313	52660313	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:52660313A>T	uc010ydj.2	-	4	1145	c.623T>A	c.(622-624)cTt>cAt	p.L208H	ZNF836_uc010ydi.2_Missense_Mutation_p.L208H	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTTTTCTCAAGTTGGGTGGG	0.373000													43	112					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85624582	85624582	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:85624582A>T	uc004amo.1	-	5	1194	c.933T>A	c.(931-933)taT>taA	p.Y311*		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	311					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTGATCAGCATAATCACTTT	0.348000													17	66					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012854	73012854	+	Silent	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:73012854C>G	uc003hgg.2	+	3	992	c.894C>G	c.(892-894)tcC>tcG	p.S298S	NPFFR2_uc010iig.2_Silent_p.S80S|NPFFR2_uc003hgi.2_Silent_p.S199S|NPFFR2_uc003hgh.2_Silent_p.S196S	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	298					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GACTCAACTCCCAGAATAAAA	0.443000													15	38					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3452154	3452154	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr20:3452154G>C	uc002wim.2	+	0	490	c.400G>C	c.(400-402)Ggc>Cgc	p.G134R	ATRN_uc002wil.2_Missense_Mutation_p.G134R|ATRN_uc021vzz.1_Intron	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	134	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCACTGCGGGGGCCGCTTCAG	0.701000													4	15					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14678281	14678281	+	Splice_Site	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:14678281T>C	uc010uzd.2	-	16	1152	c.1006_splice	c.e16-1	p.D336_splice	PARN_uc010uzc.2_Splice_Site_p.D275_splice|PARN_uc010uze.2_Splice_Site_p.D290_splice|PARN_uc010uzf.2_Splice_Site_p.D161_splice	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	336					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AATGATATCCTGCAAACCACG	0.383000													21	35					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108371744	108371744	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:108371744G>T	uc001kyl.3	-	21	3140	c.2958C>A	c.(2956-2958)aaC>aaA	p.N986K	SORCS1_uc021pxw.1_Missense_Mutation_p.N986K|SORCS1_uc009xxs.3_Missense_Mutation_p.N986K|SORCS1_uc001kym.3_Missense_Mutation_p.N986K|SORCS1_uc001kyn.2_Missense_Mutation_p.N986K|SORCS1_uc001kyo.3_Missense_Mutation_p.N986K	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	986						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTCATCCAGGTTTGGAGAAA	0.463000													34	94					7.62715e-32	8.89834e-32	1	1	0
FLJ36000	284124	broad.mit.edu	37	17	21904083	21904083	+	RNA	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:21904083C>A	uc002gza.2	+	0		c.22C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgacctctccacggggtcca	0.677000													3	38					1	1	1	1	0
LOC646214	646214	broad.mit.edu	37	15	21937291	21937291	+	RNA	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:21937291A>T	uc010tzj.1	-	0		c.3449T>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGTTTCTGTAAATTAATTTGT	0.353000													12	118					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056401	17056401	+	Silent	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:17056401G>T	uc002nfb.3	-	21	2924	c.2892C>A	c.(2890-2892)gtC>gtA	p.V964V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	917						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCGATGGGGACCCTCCTGT	0.567000													3	42					0.115264	0.117756	1	1	0
FZD4	8322	broad.mit.edu	37	11	86663362	86663362	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:86663362T>C	uc001pce.3	-	1	749	c.436A>G	c.(436-438)Agc>Ggc	p.S146G	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	146	FZ.				Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGAATTTGCTGCAGTTCAGA	0.557000													18	70					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103091430	103091430	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:103091430C>G	uc001phn.1	+	56	9169	c.9025C>G	c.(9025-9027)Cca>Gca	p.P3009A	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P3009A	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3009	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTACGCATGCCACCTGATGT	0.368000													12	78					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr14:74004293C>T	uc001xol.1	+	0	366	c.168C>T	c.(166-168)acC>acT	p.T56T	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.T56T	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	118					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCGCCGACACCCTTGGCGAGC	0.746000													8	39					0	0	1	0	0
HIBCH	26275	broad.mit.edu	37	2	191069874	191069874	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:191069874T>C	uc002uru.3	-	13	1425	c.1130A>G	c.(1129-1131)aAg>aGg	p.K377R	HIBCH_uc002urv.3_3'UTR	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	377					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TCCCAAAGACTTAAAGTGATT	0.373000													24	67					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636276	73636276	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr13:73636276C>T	uc001vje.3	+	1	863	c.539C>T	c.(538-540)cCg>cTg	p.P180L	KLF5_uc001vjd.3_Missense_Mutation_p.P89L	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	180					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCCCTCCTCCGGCCCCGACC	0.522000													16	55					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4306032	4306032	+	Silent	SNP	C	C	T	rs143212819		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:4306032C>T	uc002lzy.2	+	1	258	c.105C>T	c.(103-105)aaC>aaT	p.N35N	FSD1_uc010xie.2_Silent_p.N22N|FSD1_uc010xif.2_Silent_p.N9N	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	35					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGCTGAACGTGGAGGTGA	0.547000													24	48					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943445	27943445	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:27943445T>A	uc001boj.3	-	4	751	c.605A>T	c.(604-606)aAa>aTa	p.K202I	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.K202I|FGR_uc001bol.3_Missense_Mutation_p.K202I|FGR_uc001bom.3_Missense_Mutation_p.K202I	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	202	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATGTCCAGTTTGCGGATCTT	0.562000													25	89					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19905760	19905760	+	Silent	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:19905760G>C	uc010eci.2	-	3	1084	c.936C>G	c.(934-936)ccC>ccG	p.P312P	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Silent_p.P280P	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CACATTTGTAGGGTTTCTCTC	0.373000													10	26					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64034708	64034708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:64034708C>T	uc009ypi.3	+	29	3593	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	PLCB3_uc009ypg.2_Nonsense_Mutation_p.Q1156*|PLCB3_uc009yph.2_Nonsense_Mutation_p.Q1089*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	1156					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGGCAGCAGCAGGTCCTGCA	0.672000													25	52					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:103022865A>T	uc001phn.1	+	21	3091	c.2947_splice	c.e21-1	p.I983_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.I983_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	983	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269000													5	64					0	0	1	0	0
DPY30	84661	broad.mit.edu	37	2	32264491	32264491	+	Splice_Site	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:32264491T>A	uc002roa.1	-	2	255	c.36_splice	c.e2+1	p.Q12_splice	MEMO1_uc010ymv.1_Splice_Site|DPY30_uc002rob.1_Splice_Site_p.Q12_splice	NM_032574	NP_115963	Q9C005	DPY30_HUMAN	Homo sapiens dpy-30 homolog (C. elegans) (DPY30), mRNA.	12					endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|trans-Golgi network	protein homodimerization activity			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					TCCTGATACCTGCGTTTGTCC	0.567000													27	62					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43772079	43772079	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:43772079C>T	uc002owd.4	-	1	386	c.287G>A	c.(286-288)aGt>aAt	p.S96N	PSG9_uc002owe.4_Missense_Mutation_p.S96N|PSG9_uc010xwm.2_Missense_Mutation_p.S96N|PSG9_uc002owf.4_Missense_Mutation_p.S96N|PSG9_uc002owg.2_Missense_Mutation_p.S96N	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	96	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCTCTTCCACTGTATGCAGG	0.428000													41	94					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20814665	20814665	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr18:20814665G>A	uc002kuc.2	+	4	1182	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Silent_p.G129G	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	394	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGCTGATGGGAAGGTAAGGC	0.562000													19	43					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4792820	4792820	+	Silent	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:4792820C>A	uc002mbf.3	+	0	1093	c.954C>A	c.(952-954)gcC>gcA	p.A318A	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	318					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCTTGGGGCCCTTAAACACT	0.597000													26	61					3.1745e-13	3.55018e-13	1	1	0
ASB6	140459	broad.mit.edu	37	9	132400146	132400146	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:132400146T>A	uc004byf.2	-	5	1359	c.1189A>T	c.(1189-1191)Aaa>Taa	p.K397*	ASB6_uc004bye.1_Nonsense_Mutation_p.K322*|ASB6_uc010myx.2_Nonsense_Mutation_p.K368*|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_Nonsense_Mutation_p.K318*	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	397	SOCS box.				intracellular signal transduction	cytoplasm		p.V396V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGCAGGGCTTTGACCTTCACA	0.607000													8	17					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34934557	34934557	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:34934557C>T	uc002hnb.3	+	6	1102	c.786C>T	c.(784-786)tgC>tgT	p.C262C	GGNBP2_uc002hna.3_Silent_p.C262C|GGNBP2_uc002hnc.1_Silent_p.C91C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	262					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.C262C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACATGTTTGCTGTGAAACAG	0.463000													19	77					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862364	72862364	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:72862364G>A	uc010wrl.2	-	4	612	c.525C>T	c.(523-525)agC>agT	p.S175S	FDXR_uc010wri.2_Silent_p.S80S|FDXR_uc010wrj.2_Silent_p.S130S|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Silent_p.S132S|FDXR_uc002jly.3_Silent_p.S132S|FDXR_uc010wrk.2_Silent_p.S163S|FDXR_uc010wrm.2_Silent_p.S92S|FDXR_uc002jlz.3_Silent_p.S124S|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	132					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCCCCGTAGCTCTGATGAA	0.657000													9	54					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130438137	130438137	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:130438137G>A	uc004brk.2	+	13	1362	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	STXBP1_uc004brl.2_Missense_Mutation_p.A389T	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	389					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCCTATGCGAGCCATCGTCCC	0.507000													20	60					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833339	97833339	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:97833339T>G	uc003upd.2	+	12	4617	c.4324T>G	c.(4324-4326)Tct>Gct	p.S1442A		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1442					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCCAAGCCTTCTCTCCAAAC	0.527000													32	40					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432701	169432701	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:169432701G>T	uc011cjx.2	+	1	257	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	PALLD_uc003iru.3_Missense_Mutation_p.D16Y	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	16					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCCCTCTCAGACATGCAGGA	0.512000									Pancreatic Cancer, Familial Clustering of				3	71					0.004672	0.00493301	1	1	0
THBS1	7057	broad.mit.edu	37	15	39877738	39877738	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:39877738A>G	uc001zkh.3	+	6	1273	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	365	VWFC.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACAGTTCCTGATGGAGAATGC	0.507000													7	24					0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107682461	107682461	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:107682461G>T	uc001pjq.3	-	2	767	c.346C>A	c.(346-348)Cta>Ata	p.L116I	SLC35F2_uc010rvu.2_5'UTR|SLC35F2_uc001pjs.3_Missense_Mutation_p.L116I	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	116					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACATCTGCTAGTCCCAGCAGG	0.423000													3	82					0.115264	0.117756	1	1	0
FAM116A	201627	broad.mit.edu	37	3	57616537	57616537	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:57616537T>G	uc003dja.3	-	16	1493	c.1422A>C	c.(1420-1422)ttA>ttC	p.L474F		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	474										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GAAACTGTCTTAATTGAGGTG	0.353000													39	76					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276534	75276534	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:75276534G>C	uc002fdv.3	-	1	613	c.467C>G	c.(466-468)cCg>cGg	p.P156R	BCAR1_uc010vna.2_Missense_Mutation_p.P154R|BCAR1_uc010cgu.3_Missense_Mutation_p.P156R|BCAR1_uc010vnb.2_Missense_Mutation_p.P202R|BCAR1_uc002fdw.3_Missense_Mutation_p.P156R|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.P174R|BCAR1_uc002fdx.3_Missense_Mutation_p.P174R	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	156	Substrate for kinases (By similarity).				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGGGAAACGGGTGATGGGG	0.642000													24	56					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622528	30622528	+	Silent	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr6:30622528C>A	uc003nqz.3	-	18	3164	c.2952G>T	c.(2950-2952)ctG>ctT	p.L984L	DHX16_uc003nqy.3_Silent_p.L503L|DHX16_uc011dmo.2_Silent_p.L924L	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	984					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CGTGGTAGAGCAGCCAGCGTG	0.542000													18	47					2.54575e-18	2.91604e-18	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150935559	150935559	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:150935559T>G	uc003wjr.1	+	3	3624	c.2111T>G	c.(2110-2112)gTg>gGg	p.V704G	CHPF2_uc003wjq.1_Missense_Mutation_p.V696G|CHPF2_uc022aqb.1_Non-coding_Transcript	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	704						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGGCTGGAGGTGATGGATGTT	0.647000													4	85					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489950	20489950	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:20489950G>A	uc010bwe.3	+	10	1471	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	ACSM2A_uc010vax.1_Missense_Mutation_p.G332D|ACSM2A_uc002dhf.4_Missense_Mutation_p.G411D|ACSM2A_uc002dhg.4_Missense_Mutation_p.G411D|ACSM2A_uc010vay.2_Missense_Mutation_p.G332D|ACSM2A_uc002dhh.4_Missense_Mutation_p.G41D	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	411					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGAGACATTGGCATCAGGGTC	0.527000													21	34					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453314	64453314	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:64453314C>T	uc021qkw.1	-	5	1418	c.956G>A	c.(955-957)cGc>cAc	p.R319H	NRXN2_uc021qkx.1_Missense_Mutation_p.R295H|NRXN2_uc001oas.3_Missense_Mutation_p.R295H|NRXN2_uc001oaq.3_5'UTR	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	319	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTGCAGGGTGCGGAAGGCCAG	0.562000													4	159					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898967	233898967	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:233898967C>T	uc010zmn.2	+	1	343	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	115							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCAACAGCAGCTGCAGACCAG	0.627000													8	45					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101054051	101054051	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr8:101054051G>A	uc003yjb.1	-	11	2112	c.1917C>T	c.(1915-1917)taC>taT	p.Y639Y	RGS22_uc003yja.1_Silent_p.Y458Y|RGS22_uc003yjc.1_Silent_p.Y627Y|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Silent_p.Y543Y|RGS22_uc022azf.1_Silent_p.Y28Y	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	639					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTGTATAAGCGTATCTTCTAT	0.358000													3	66					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937048	152937048	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:152937048G>C	uc011myu.2	-	5	929	c.743C>G	c.(742-744)gCt>gGt	p.A248G	PNCK_uc011myt.2_Missense_Mutation_p.A182G|PNCK_uc004fhz.4_Missense_Mutation_p.A63G|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.A192G|PNCK_uc011myw.2_Missense_Mutation_p.A192G	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	165	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTTCCCAGCCTGGATTTT	0.602000													34	20					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176395662	176395662	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:176395662C>T	uc021yil.1	-	5	1261	c.1094G>A	c.(1093-1095)aGg>aAg	p.R365K	UIMC1_uc021yim.1_Missense_Mutation_p.R365K|UIMC1_uc021yin.1_Missense_Mutation_p.R365K|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	365	AIR.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCAGATGCCCTAGACTCCTG	0.433000													24	85					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94033045	94033045	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:94033045G>C	uc001dpz.3	-	10	2365	c.2090C>G	c.(2089-2091)tCc>tGc	p.S697C	BCAR3_uc001dqa.3_Missense_Mutation_p.S697C|BCAR3_uc001dqb.3_Missense_Mutation_p.S697C|BCAR3_uc001dpx.4_Missense_Mutation_p.S373C|BCAR3_uc001dpy.3_Missense_Mutation_p.S606C	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	697	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AACACATGTGGACTCTGAAGA	0.463000													13	48					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276113	152276113	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:152276113G>T	uc001ezu.1	-	2	11285	c.11249C>A	c.(11248-11250)gCg>gAg	p.A3750E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3750	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGACGCTGAGTGCCT	0.602000									Ichthyosis				3	118					0.150653	0.153083	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49994268	49994268	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:49994268T>C	uc001ruo.3	-	3	1328	c.1155A>G	c.(1153-1155)atA>atG	p.I385M	FAM186B_uc010smk.2_Missense_Mutation_p.I295M	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	385						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCCTGCAGCTATAGCACCAC	0.567000													3	61					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507083	71507083	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:71507083G>A	uc001oqv.4	+	3	308	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM86C1_uc009ysr.3_Silent_p.K87K|FAM86C1_uc001oqw.4_Silent_p.K60K|FAM86C1_uc009yss.3_Non-coding_Transcript|FAM86C1_uc010rqq.2_Non-coding_Transcript|BC073927_uc001oqx.1_Intron	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member C1 (FAM86C1), transcript variant 1, mRNA.	94										lung(1)	1						TTGCCCAGAAGCCATCGTGTC	0.612000													3	54					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10444569	10444569	+	Silent	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:10444569T>A	uc002mob.2	-	6	1663	c.1608A>T	c.(1606-1608)acA>acT	p.T536T	RAVER1_uc002moa.3_5'Flank|ICAM3_uc010dxd.1_Silent_p.T459T	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	536					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCATTGCTTCTGTCGGCTGCA	0.567000													20	85					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23723161	23723161	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:23723161G>A	uc004dao.3	-	13	1202	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	ACOT9_uc004dan.3_Silent_p.I93I|ACOT9_uc004dap.3_Silent_p.I343I|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Silent_p.I283I	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	343					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TCTGAAACATGATGTCATCTA	0.403000													81	51					0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16639640	16639640	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:16639640C>G	uc003cba.3	-	2	544	c.256G>C	c.(256-258)Gtg>Ctg	p.V86L	DAZL_uc003cbb.3_Missense_Mutation_p.V66L	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	66	Homodimerization (By similarity).|RRM.				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTTCTTTCACTGAACCATAT	0.333000													4	139					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542029	154542029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:154542029C>A	uc010ipp.3	+	26	3741	c.3689C>A	c.(3688-3690)tCa>tAa	p.S1230*	KIAA0922_uc003inm.4_Nonsense_Mutation_p.S1229*|KIAA0922_uc010ipq.3_Nonsense_Mutation_p.S998*	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1229						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCTCCAGTCTCAAGGTGCGTA	0.303000													161	386					2.71998e-50	3.21298e-50	1	1	0
BACE1	23621	broad.mit.edu	37	11	117186300	117186300	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:117186300G>A	uc001pqz.3	-	0	673	c.212C>T	c.(211-213)tCg>tTg	p.S71L	BACE1_uc001pqw.3_Missense_Mutation_p.S71L|BACE1_uc001pqx.3_Missense_Mutation_p.S71L|BACE1_uc001pqy.3_Missense_Mutation_p.S71L|BACE1_uc001pra.1_Missense_Mutation_p.S71L	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	71					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCCCTGCCCCGACTTGCCCCT	0.697000													37	68					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29533389	29533389	+	Splice_Site	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:29533389G>A	uc002hgg.3	+	12	1775	c.1392_splice	c.e12+1	p.P464_splice	NF1_uc002hge.2_Splice_Site_p.P464_splice|NF1_uc002hgf.2_Splice_Site_p.P464_splice|NF1_uc002hgh.3_Splice_Site_p.P464_splice|NF1_uc010csn.2_Splice_Site_p.P324_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	464					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAATGGCACCGGTAAGATAAA	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	112					0	0	1	0	0
FBXL22	283807	broad.mit.edu	37	15	63889797	63889797	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:63889797C>T	uc002amn.3	+	0	246	c.188C>T	c.(187-189)cCg>cTg	p.P63L	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_Missense_Mutation_p.P63L	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	63										lung(4)	4						CTCCTGGGCCCGGCACTCCGC	0.617000													5	18					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30569338	30569338	+	Silent	SNP	G	G	T	rs112425159		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:30569338G>T	uc002dyq.3	-	0	305	c.166C>A	c.(166-168)Cgg>Agg	p.R56R	ZNF764_uc002dyr.2_Silent_p.R56R	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TAGGTCTCCCGCATCACGTCC	0.731000													3	114					0.000602214	0.000643042	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016957	23016957	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr20:23016957G>T	uc002wsr.2	+	0	901	c.837G>T	c.(835-837)caG>caT	p.Q279H		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	279					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGTGGTGCAGCTGCTGAACC	0.572000													3	54					1	1	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51585173	51585173	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:51585173G>A	uc001jis.4	+	7	1475	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Silent_p.K440K|NCOA4_uc010qhd.2_Silent_p.K440K|NCOA4_uc010qhe.2_Silent_p.K324K|NCOA4_uc010qhf.2_Silent_p.K258K|NCOA4_uc001jit.3_Silent_p.K424K|NCOA4_uc009xoo.3_Silent_p.K424K	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	424					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATTGTGAGAAGGAGGCTCTGT	0.478000			T	RET	papillary thyroid								39	91					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27268248	27268248	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:27268248A>G	uc001bng.1	+	3	484	c.368A>G	c.(367-369)aAg>aGg	p.K123R	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	123					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CCCCAGAAAAAGGATGCAGAG	0.597000													3	140					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41551436	41551436	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr8:41551436C>T	uc003xok.3	-	28	3596	c.3512G>A	c.(3511-3513)cGc>cAc	p.R1171H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R487H|ANK1_uc003xoi.3_Missense_Mutation_p.R1171H|ANK1_uc003xoj.3_Missense_Mutation_p.R1171H|ANK1_uc003xol.3_Missense_Mutation_p.R1171H|ANK1_uc003xom.3_Missense_Mutation_p.R1212H	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1171					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1171H(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAAAGCAGGCGCAGGCTGGT	0.647000													30	96					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206767112	206767112	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:206767112C>T	uc001heh.2	-	13	1749	c.1540G>A	c.(1540-1542)Ggt>Agt	p.G514S	EIF2D_uc009xbw.2_Missense_Mutation_p.G390S	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	514	SUI1.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGGTCCAGACCATAGGCCTCC	0.622000													8	24					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64813975	64813975	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:64813975G>A	uc001ocn.3	-	13	1639	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	NAALADL1_uc010rnw.2_Silent_p.Y17Y|NAALADL1_uc009ypz.3_Intron	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	541	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTAGGTGGGGTAGATCCTGG	0.552000													28	89					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42218379	42218379	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:42218379G>A	uc003cky.3	+	2	576	c.360G>A	c.(358-360)gaG>gaA	p.E120E	TRAK1_uc011azh.2_Silent_p.E120E|TRAK1_uc011azi.2_Silent_p.E120E|TRAK1_uc003ckz.4_Silent_p.E46E|TRAK1_uc011azj.2_Silent_p.E46E|TRAK1_uc003cla.3_Silent_p.E62E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	120	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCTTCTTGAGGAGGTAAGTG	0.388000													34	36					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251781	47251781	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr6:47251781T>C	uc003oyv.3	-	2	1569	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	379					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCGGGGCCCCTTTTTCAGAGT	0.512000													3	93					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839143	14839143	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:14839143C>G	uc001rcd.3	-	2	484	c.347G>C	c.(346-348)gGc>gCc	p.G116A	GUCY2C_uc009zhz.2_Missense_Mutation_p.G116A	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	116					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GAGGACACAGCCCATCCGTTG	0.428000													25	37					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11925180	11925180	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:11925180C>T	uc010yjm.2	+	10	1727	c.1674C>T	c.(1672-1674)agC>agT	p.S558S	LPIN1_uc010yjn.2_Silent_p.S473S|LPIN1_uc002rbt.3_Silent_p.S473S|LPIN1_uc010yjo.2_5'Flank	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	473					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGGGCCTCAGCGACCACCGGG	0.697000											OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	64					0	0	1	0	0
LRRC57	255252	broad.mit.edu	37	15	42837381	42837381	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:42837381C>T	uc001zqd.2	-	3	940	c.572G>A	c.(571-573)aGc>aAc	p.S191N	LRRC57_uc001zqc.3_Missense_Mutation_p.S191N	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.	191										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GGGAAGCATGCTGAGCTCAAG	0.423000													23	43					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501526	150501526	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:150501526G>T	uc003whx.1	+	5	710	c.632G>T	c.(631-633)tGg>tTg	p.W211L		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	211						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCCCTCTGTGGCTGTACTGC	0.557000													12	59					1.5842e-08	1.73072e-08	1	1	0
LARP6	55323	broad.mit.edu	37	15	71128826	71128826	+	Silent	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:71128826T>C	uc002ass.3	-	1	290	c.219A>G	c.(217-219)ggA>ggG	p.G73G		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	73					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CGTTCTCACCTCCACTTGCAG	0.522000													22	40					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138855862	138855862	+	Missense_Mutation	SNP	C	C	T	rs117897081	by1000genomes	TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:138855862C>T	uc003lep.3	-	7	1426	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	375					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAAATCCGTGCGGAGAGGGAG	0.597000													29	39					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41343439	41343439	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:41343439T>C	uc010whv.2	+	9	997	c.914T>C	c.(913-915)tTg>tCg	p.L305S	NBR1_uc010czd.3_Missense_Mutation_p.L305S|NBR1_uc010diz.3_Missense_Mutation_p.L305S|NBR1_uc010whu.2_Missense_Mutation_p.L305S|NBR1_uc010whw.2_Missense_Mutation_p.L284S|NBR1_uc010whx.1_Missense_Mutation_p.L114S	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	305					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AAGCAAAGGTTGCGAGCTGAG	0.373000													71	207					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27402259	27402259	+	Splice_Site	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:27402259C>G	uc001mrj.4	-	9	1316	c.831_splice	c.e9-1	p.I277_splice	LGR4_uc001mrk.4_Splice_Site_p.I253_splice	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	277						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATACAAATGTCTGTGAAAATA	0.299000													67	134					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904062	21904062	+	Splice_Site	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:21904062G>T	uc002gza.2	+	1		c.1_splice	c.e1-1							Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tcgggcctccgaggctccggc	0.647000													3	15					0.0215528	0.0223817	1	1	0
LIMK1	3984	broad.mit.edu	37	7	73535230	73535230	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:73535230G>A	uc003uaa.2	+	14	1846	c.1632G>A	c.(1630-1632)ggG>ggA	p.G544G	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.G510G	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	544	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				AGATCATCGGGCGGGTGAACG	0.647000													5	104					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13504436	13504436	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:13504436G>T	uc002gob.1	-	0	809	c.11C>A	c.(10-12)cCg>cAg	p.P4Q		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	4						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCGGGCCCGGAGGGGCCAT	0.711000													12	38					6.53275e-17	7.39335e-17	1	1	0
OR4K17	390436	broad.mit.edu	37	14	20585754	20585754	+	Silent	SNP	G	G	A	rs138358295	byFrequency	TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr14:20585754G>A	uc001vwo.1	+	0	189	c.189G>A	c.(187-189)tcG>tcA	p.S63S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCTCTTCTCGGTTATCTATG	0.408000													37	99					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325212	47325212	+	RNA	SNP	G	G	A	rs111656248	by1000genomes	TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:47325212G>A	uc001cqo.1	-	8		c.1356C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AATAAGAATGGCCCTAGGTTC	0.393000													3	58					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152941	101152941	+	Silent	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:101152941A>T	uc011mrl.2	-	4	755	c.405T>A	c.(403-405)atT>atA	p.I135I	ZMAT1_uc004ein.3_5'UTR|ZMAT1_uc011mrm.2_5'UTR	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAGACTGAGCAATAAGTGGAG	0.403000													31	33					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13055803	13055803	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr18:13055803A>T	uc010xac.2	+	18	3294	c.3214A>T	c.(3214-3216)Acc>Tcc	p.T1072S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.T597S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.T813S	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	667										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAGTTGAGTACCACAATTAT	0.368000													12	26					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250983	179250983	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:179250983A>T	uc003mkw.4	+	2	522	c.427A>T	c.(427-429)Agc>Tgc	p.S143C	SQSTM1_uc011dgr.2_Missense_Mutation_p.S59C|SQSTM1_uc011dgs.2_Missense_Mutation_p.S59C|SQSTM1_uc003mkx.3_Missense_Mutation_p.S59C	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	143	Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACAAGTGCAGCGTCTGCCC	0.642000													35	41					0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110902939	110902939	+	Silent	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:110902939T>C	uc021rdu.1	-	1	331	c.246A>G	c.(244-246)gcA>gcG	p.A82A	GPN3_uc001tqr.3_Silent_p.A43A|GPN3_uc001tqs.3_Silent_p.A53A	NM_001164372	NP_001157844	Q9UHW5	GPN3_HUMAN	Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 2, mRNA.	43						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TGAAGTGTTCTGCTGCTGGAT	0.547000													13	76					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176588	41176588	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:41176588A>T	uc003jmk.2	-	7	1367	c.1157T>A	c.(1156-1158)cTa>cAa	p.L386Q	C6_uc003jml.1_Missense_Mutation_p.L386Q|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	386	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGAGTTCTTTAGTTCCTCACT	0.393000													4	154					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100918	27100918	+	Silent	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:27100918T>C	uc001bmv.1	+	17	4573	c.4200T>C	c.(4198-4200)ccT>ccC	p.P1400P	ARID1A_uc001bmt.1_Silent_p.P1399P|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.P1017P|ARID1A_uc001bmx.1_Silent_p.P246P|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1400	Gln-rich.				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	SWI/SNF complex|nBAF complex|npBAF 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)		AGGGGCAGCCTCAGCAGCAGC	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								28	92					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45936826	45936826	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:45936826T>A	uc001jce.3	+	8	1319	c.1220T>A	c.(1219-1221)aTc>aAc	p.I407N	ALOX5_uc009xmt.3_Missense_Mutation_p.I407N|ALOX5_uc010qfg.2_Missense_Mutation_p.I407N|ALOX5_uc021ppr.1_Missense_Mutation_p.I407N	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	407	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCATTGCAATCAACACCAAG	0.627000													21	34					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52649430	52649430	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:52649430T>A	uc003des.2	-	14	1873	c.1861A>T	c.(1861-1863)Aaa>Taa	p.K621*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.K621*|PBRM1_uc003der.2_Nonsense_Mutation_p.K589*|PBRM1_uc003det.2_Nonsense_Mutation_p.K636*|PBRM1_uc003deu.2_Nonsense_Mutation_p.K636*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.K621*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.K621*|PBRM1_uc003dey.2_Nonsense_Mutation_p.K621*|PBRM1_uc003dez.1_Nonsense_Mutation_p.K621*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.K534*|PBRM1_uc003dfc.3_5'UTR	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	621			K -> E (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.K621E(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTTCCTTTTCTCCTTGAGT	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								28	22					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122081599	122081599	+	Silent	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:122081599A>G	uc022akp.1	-	14	2729	c.2307T>C	c.(2305-2307)ggT>ggC	p.G769G	CADPS2_uc003vkg.4_Silent_p.G470G|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.G770G|CADPS2_uc022akr.1_Silent_p.G773G	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	773	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTTTTAGAGCACCTTCAGGTC	0.313000													68	287					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996484	28996484	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:28996484G>A	uc003szt.3	-	2	1543	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	393	LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GCAGGGCCGGGGGGTGGCGAC	0.662000													14	38					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49148178	49148178	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:49148178G>T	uc001zxb.1	-	7	1643	c.1214C>A	c.(1213-1215)cCc>cAc	p.P405H	SHC4_uc010uey.1_Missense_Mutation_p.P162H|SHC4_uc010uez.1_Missense_Mutation_p.P119H	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	405	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACACTGTATGGGGCAGTAAGC	0.408000													24	78					2.41591e-17	2.75065e-17	1	1	0
UNC5A	90249	broad.mit.edu	37	5	176305475	176305475	+	Splice_Site	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:176305475G>A	uc003mey.3	+	13	2212	c.2020_splice	c.e13-1	p.E674_splice		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	674					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.?(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCCCATCAGGAGATCCCCT	0.612000													22	76					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289396	46289396	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:46289396T>G	uc002pdj.1	-	2	1404	c.1358A>C	c.(1357-1359)cAc>cCc	p.H453P	DMWD_uc021uwc.1_Missense_Mutation_p.T107P|DMWD_uc010eko.1_Missense_Mutation_p.H138P	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	453					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGGGGGGGGTGCGGGTAGAG	0.711000													7	49					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170508438	170508438	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:170508438A>C	uc001gha.2	+	1	251	c.224A>C	c.(223-225)aAa>aCa	p.K75T	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Missense_Mutation_p.K75T|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	75						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAAGCCAAAAACTTGGGCTT	0.443000													35	95					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029290	76029290	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:76029290A>G	uc003ken.4	+	1	1505	c.1240A>G	c.(1240-1242)Aac>Gac	p.N414D		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	414					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTGCTCTAGTAACCTGAATAA	0.388000													18	87					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639297	9639297	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:9639297G>A	uc002mlq.3	-	7	1688	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	ZNF426_uc010dws.3_Missense_Mutation_p.P437L	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACACTCATAGGGTTTTTCTCC	0.428000													28	73					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3271084	3271084	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:3271084C>G	uc003zhr.3	-	10	1433	c.1121G>C	c.(1120-1122)aGc>aCc	p.S374T	RFX3_uc010mhd.3_Missense_Mutation_p.S374T|RFX3_uc003zhs.1_Missense_Mutation_p.S374T|RFX3_uc003zht.1_Missense_Mutation_p.S374T	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	374					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCTATCAGGCTAAATTGAAG	0.388000													29	70					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179843225	179843225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:179843225C>A	uc002une.2	-	2	521	c.403G>T	c.(403-405)Gaa>Taa	p.E135*	CCDC141_uc002ung.3_Nonsense_Mutation_p.E135*	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	198							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGGCATTTTCAAAAAATTCA	0.413000													15	66					1.52009e-12	1.68998e-12	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47030855	47030855	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:47030855C>T	uc003cqp.3	+	4	636	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	NBEAL2_uc003cqq.1_Missense_Mutation_p.R146W	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	153							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCAAACCTGGCGGCGCCAGCG	0.667000													3	67					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968102	80968102	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:80968102A>T	uc001kaf.2	+	5	642	c.70A>T	c.(70-72)Aat>Tat	p.N24Y	ZMIZ1_uc001kae.3_Missense_Mutation_p.N24Y	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	24					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCACTTACAGAATCCTGCCAA	0.622000													12	37					0	0	1	0	0
MRPS15	64960	broad.mit.edu	37	1	36921882	36921882	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:36921882A>G	uc001cas.2	-	6	706	c.542T>C	c.(541-543)aTa>aCa	p.I181T		NM_031280	NP_112570	P82914	RT15_HUMAN	Homo sapiens mitochondrial ribosomal protein S15 (MRPS15), nuclear gene encoding mitochondrial protein, mRNA.	181					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCCAGCATATCTTCTCAAA	0.498000													21	44					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41136856	41136856	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:41136856C>A	uc001zna.3	+	1	308	c.104C>A	c.(103-105)gCc>gAc	p.A35D	SPINT1_uc001znb.3_Missense_Mutation_p.A35D|SPINT1_uc001znc.3_Missense_Mutation_p.A35D|SPINT1_uc010ucs.2_Missense_Mutation_p.A35D	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	35						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGCACCCAGGCCGGGCCACCG	0.761000													18	48					3.62473e-10	4.00628e-10	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32639267	32639267	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr21:32639267G>A	uc002yow.1	-	4	494	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	TIAM1_uc011adk.1_Missense_Mutation_p.H8Y|TIAM1_uc011adl.1_Missense_Mutation_p.H8Y|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	8					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGCTCTACATGTTGACTTTCT	0.527000													5	13					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41129532	41129532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:41129532C>T	uc002ooh.1	+	28	3778	c.3778C>T	c.(3778-3780)Cga>Tga	p.R1260*	LTBP4_uc002oog.1_Nonsense_Mutation_p.R1223*|LTBP4_uc002ooi.1_Nonsense_Mutation_p.R1193*|LTBP4_uc002ooj.1_Nonsense_Mutation_p.R134*|LTBP4_uc002ook.1_Nonsense_Mutation_p.R395*|LTBP4_uc002ool.1_Nonsense_Mutation_p.R273*|LTBP4_uc010xvp.1_Nonsense_Mutation_p.R21*	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1261	EGF-like 13; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGCTCTTCCGAGACCAGGT	0.587000													12	28					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1960690	1960690	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:1960690G>A	uc001aip.2	+	6	927	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	278						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCGGTGCCCGCCAGGGTGTC	0.682000													5	39					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74879906	74879906	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:74879906A>C	uc001jtj.3	+	2	339	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	NUDT13_uc010qkc.2_5'UTR|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Missense_Mutation_p.S72R|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Missense_Mutation_p.S72R	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	72							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CCCCCGGCACAGCCTGTTAGG	0.498000													15	29					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082258	16082258	+	Silent	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:16082258A>G	uc002rci.3	+	1	372	c.72A>G	c.(70-72)ctA>ctG	p.L24L	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Silent_p.L24L	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	24					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTGACTCGCTACAGCCCTGCT	0.642000			A		neuroblastoma								47	135					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40849969	40849969	+	Splice_Site	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:40849969G>T	uc002iay.3	+	23	4078	c.3862_splice	c.e23+1	p.F1288_splice	CNTNAP1_uc010wgs.2_Splice_Site	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1288					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTTTTAGGCTGTGAGTAGCAC	0.517000													3	56					1	1	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70646796	70646796	+	Silent	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr6:70646796A>G	uc003pfc.1	+	7	984	c.867A>G	c.(865-867)ccA>ccG	p.P289P	COL19A1_uc010kam.2_Silent_p.P185P	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	289					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGTGCATTCCAAACAAGGTAT	0.448000													25	66					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48576974	48576974	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:48576974G>A	uc002efp.3	-	6	2769	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	844					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAGCTGGCATGGGCAGGTTCT	0.577000													8	53					0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228204	31228204	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:31228204A>G	uc021tgv.1	-	0	146	c.146T>C	c.(145-147)aTc>aCc	p.I49T	TRIM72_uc002ebn.2_Intron|PYDC1_uc002ebo.3_Missense_Mutation_p.I49T	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	Homo sapiens PYD (pyrin domain) containing 1 (PYDC1), mRNA.	49	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGGTCCACGATATCTAGCTG	0.652000													20	70					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697891	55697891	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:55697891G>A	uc002qjq.3	-	14	2657	c.2584C>T	c.(2584-2586)Ccc>Tcc	p.P862S	PTPRH_uc010esv.3_Missense_Mutation_p.P684S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	862	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGCTTCAGGGGCACCCGGGAC	0.587000													3	39					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72145214	72145214	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:72145214T>A	uc001osj.3	-	0	355	c.305A>T	c.(304-306)gAc>gTc	p.D102V	CLPB_uc010rqx.2_Silent_p.G21G|CLPB_uc010rqy.2_Missense_Mutation_p.D102V|CLPB_uc001osk.3_Missense_Mutation_p.D102V|CLPB_uc010rqz.2_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	102					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTTCCAGCTGTCCTGTCCTGG	0.662000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	49					0	0	1	0	0
ZNF830	91603	broad.mit.edu	37	17	33288777	33288777	+	Silent	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:33288777C>A	uc002hih.4	+	0	229	c.192C>A	c.(190-192)ctC>ctA	p.L64L	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	64					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AGAGCGAGCTCCTGTGGCAGA	0.582000													42	63					3.39706e-21	3.9149e-21	1	1	0
SH3TC1	54436	broad.mit.edu	37	4	8230146	8230146	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:8230146T>C	uc003gkv.4	+	11	2826	c.2725T>C	c.(2725-2727)Ttc>Ctc	p.F909L	SH3TC1_uc003gkw.4_Missense_Mutation_p.F833L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	909							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGGCCAACTTCGGGGCCCT	0.706000													24	49					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60384475	60384475	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr18:60384475T>A	uc021ule.1	+	0	1804	c.1559T>A	c.(1558-1560)cTc>cAc	p.L520H		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	520					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ATTGGCTGCCTCATCCGCTTC	0.537000													14	25					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1540611	1540611	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:1540611G>C	uc004cpx.2	-	8	1322	c.1185C>G	c.(1183-1185)atC>atG	p.I395M	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.I379M|ASMTL_uc011mhe.2_Missense_Mutation_p.I319M|ASMTL_uc011mhf.2_Missense_Mutation_p.I337M	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	395	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCCTCTCGGATGGCAAACT	0.537000													100	142					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752256	15752256	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:15752256C>G	uc010xok.2	+	1	81	c.31C>G	c.(31-33)Ctt>Gtt	p.L11V	CYP4F3_uc010xol.2_Missense_Mutation_p.L11V|CYP4F3_uc002nbj.3_Missense_Mutation_p.L11V|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.L11V	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	11					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCGCTGGGCCTTTGGCCAAT	0.652000													14	45					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640750	76640750	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr6:76640750G>A	uc003pik.1	-	14	2293	c.2163C>T	c.(2161-2163)agC>agT	p.S721S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	721					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GACCGTCCAGGCTCCCCTGGC	0.587000													3	90					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801321	24801321	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:24801321C>G	uc002dmm.3	+	5	1472	c.1358C>G	c.(1357-1359)cCa>cGa	p.P453R	TNRC6A_uc010bxs.3_Missense_Mutation_p.P200R|TNRC6A_uc010vcc.1_Missense_Mutation_p.P200R|TNRC6A_uc002dmn.3_Missense_Mutation_p.P200R|TNRC6A_uc002dmo.3_Missense_Mutation_p.P200R	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	453	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding	p.P453Q(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGACTGGACCAAATAACACT	0.438000													22	65					0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182369011	182369011	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:182369011A>G	uc001gpe.3	-	0	741	c.610T>C	c.(610-612)Tgg>Cgg	p.W204R		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	Homo sapiens transmembrane epididymal protein 1 (TEDDM1), mRNA.	204						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						ATCACATGCCAGCAGAAGAAG	0.488000													26	78					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195513365	195513365	+	Missense_Mutation	SNP	G	G	A	rs62282501	by1000genomes	TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:195513365G>A	uc021xjp.1	-	1	5242	c.5086C>T	c.(5086-5088)Cgt>Tgt	p.R1696C	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	492					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGACGGGTGGTGTCA	0.602000													6	190					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59268266	59268266	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:59268266T>G	uc001sqr.3	-	16	3031	c.2785A>C	c.(2785-2787)Atg>Ctg	p.M929L	LRIG3_uc009zqh.3_Missense_Mutation_p.M869L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	929						integral to membrane		p.P928L(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTCAAATACATAGGGCCTGTG	0.428000			T	ROS1	NSCLC								41	74					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67189985	67189985	+	Silent	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:67189985T>C	uc010dfa.1	-	13	2370	c.1491A>G	c.(1489-1491)aaA>aaG	p.K497K	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Silent_p.K98K	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	497	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCTGAATCCCTTTTATTTTAG	0.328000													3	128					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43388848	43388848	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:43388848A>T	uc003cms.4	+	6	1429	c.1097A>T	c.(1096-1098)aAa>aTa	p.K366I	SNRK_uc003cmt.4_Missense_Mutation_p.K366I|SNRK_uc010hik.3_Missense_Mutation_p.K366I|SNRK_uc011azr.2_Missense_Mutation_p.K160I	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	366					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGGCCAACCAAAATTGATGTA	0.483000													16	9					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627458	41627458	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:41627458C>T	uc002opu.1	+	4	636	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R194C|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	194					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R194H(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGATGATGAGCGTCTGCTCAC	0.562000													12	28					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175092	125175092	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:125175092G>A	uc010flu.3	+	3	818	c.454G>A	c.(454-456)Gtt>Att	p.V152I	CNTNAP5_uc002tno.3_Missense_Mutation_p.V152I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	152	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCCGATTTGTTCGCTTTGT	0.498000													33	77					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45561034	45561034	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:45561034G>A	uc002pak.3	+	6	589	c.491G>A	c.(490-492)gGt>gAt	p.G164D	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.G102D|CLASRP_uc002pam.3_Missense_Mutation_p.G164D|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	164					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCTTCCATCGGTTATACCTAC	0.617000													21	63					0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168350	74168350	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:74168350T>A	uc021qng.1	-	0	259	c.259A>T	c.(259-261)Aag>Tag	p.K87*	KCNE3_uc001ovc.3_Nonsense_Mutation_p.K87*|KCNE3_uc001ovd.2_Nonsense_Mutation_p.K87*	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	87						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TCACTACGCTTGTCCACTTTG	0.498000													17	59					0	0	1	0	0
RPRML	388394	broad.mit.edu	37	17	45056083	45056083	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:45056083G>T	uc002ilb.3	-	0	532	c.291C>A	c.(289-291)agC>agA	p.S97R	GOSR2_uc010wkh.1_Intron	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN	Homo sapiens reprimo-like (RPRML), mRNA.	97						integral to membrane				lung(1)	1						AGTTGATCATGCTCTCGGACT	0.652000													22	59					2.44723e-14	2.75314e-14	1	1	0
DRAM2	128338	broad.mit.edu	37	1	111667502	111667502	+	Splice_Site	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:111667502G>T	uc001ead.4	-	5	457	c.200_splice	c.e5-1	p.C67_splice	DRAM2_uc001eae.4_Splice_Site_p.C67_splice|DRAM2_uc009wfy.3_Splice_Site	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 2 (DRAM2), mRNA.	67					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TGGTAGCAATGCCTGGGAAAA	0.358000													3	56					0.00024832	0.000266662	1	1	0
HDAC11	79885	broad.mit.edu	37	3	13525052	13525052	+	Silent	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:13525052T>G	uc003bxy.3	+	2	373	c.240T>G	c.(238-240)ctT>ctG	p.L80L	HDAC11_uc010heb.3_Silent_p.L52L|HDAC11_uc011aux.2_Intron|HDAC11_uc011auy.2_Silent_p.L52L	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	80	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GGCGCTATCTTAATGAGCTCA	0.647000													48	34					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	32					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176594	41176594	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:41176594T>G	uc003jmk.2	-	7	1361	c.1151A>C	c.(1150-1152)gAg>gCg	p.E384A	C6_uc003jml.1_Missense_Mutation_p.E384A|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	384	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTAGTTCCTCACTGCTAAA	0.393000													4	160					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338447	50338447	+	Silent	SNP	C	C	T	rs144290211		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:50338447C>T	uc002egd.1	+	9	1813	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	ADCY7_uc002egb.1_Silent_p.N515N|ADCY7_uc002egc.2_Silent_p.N515N	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	515					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACGTCCCCAACGGGCGGAGGC	0.652000													22	69					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485704	100485704	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:100485704C>A	uc003uwy.2	+	17	2635	c.2368C>A	c.(2368-2370)Cag>Aag	p.Q790K	SRRT_uc010lhl.1_Missense_Mutation_p.Q789K|SRRT_uc003uxa.2_Missense_Mutation_p.Q785K|SRRT_uc003uwz.2_Missense_Mutation_p.Q786K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	790	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTACCCACACCAGACTCCCCA	0.612000													57	65					1.72039e-30	1.99481e-30	1	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130319535	130319535	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:130319535C>G	uc010scd.2	+	0	667	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	223	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CGTGGAGACGCTGGTGGTCGC	0.667000											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	67					0	0	1	0	0
MSTO2P	100129405	broad.mit.edu	37	1	155717420	155717424	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:155717420_155717424delAGAGC	uc010pgo.1	+	6	638_642	c.627_631delAGAGC	c.(625-633)gaagagctgfs	p.E209fs	GON4L_uc021paz.1_Intron|MSTO2P_uc010pgn.1_Frame_Shift_Del_p.E209fs|MSTO2P_uc010pgp.2_Non-coding_Transcript					Homo sapiens misato homolog 2 pseudogene (MSTO2P), non-coding RNA.																		AGTACCAGGAAGAGCTGGAGGACAG	0.527													31	207	---	---	---	---					
MSTO2P	100129405	broad.mit.edu	37	1	155717426	155717426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:155717426delG	uc010pgo.1	+	6	644	c.633delG	c.(631-633)ctgfs	p.L211fs	GON4L_uc021paz.1_Intron|MSTO2P_uc010pgn.1_Frame_Shift_Del_p.L211fs|MSTO2P_uc010pgp.2_Non-coding_Transcript					Homo sapiens misato homolog 2 pseudogene (MSTO2P), non-coding RNA.																		AGGAAGAGCTGGAGGACAGGC	0.532													31	184	---	---	---	---					
PARP1	142	broad.mit.edu	37	1	226555997	226555999	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:226555997_226555999delGAG	uc001hqd.4	-	15	2349_2351	c.2178_2180delCTC	c.(2176-2181)gactct>gat	p.S727del		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	727	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CAGGATCTGAGAGTCGCTGCTGC	0.562								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					17	49	---	---	---	---					
REV1	51455	broad.mit.edu	37	2	100019396	100019397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:100019396_100019397insA	uc002tad.3	-	19	3551_3552	c.3339_3340insT	c.(3337-3342)attgatfs	p.I1113fs	REV1_uc002tac.3_Frame_Shift_Ins_p.I1112fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	1113					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAAACCCATCAATTAACTTCT	0.421								Direct reversal of damage					27	71	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202572610	202572610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:202572610delG	uc002uyo.3	-	27	4741	c.4385delC	c.(4384-4386)tctfs	p.S1462fs	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1462					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.R1461Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGTGATTCAGATCGGGAATC	0.488													23	236	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202572613	202572623	+	Frame_Shift_Del	DEL	CGGGAATCTGA	CGGGAATCTGA	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:202572613_202572623delCGGGAATCTGA	uc002uyo.3	-	27	4728_4738	c.4372_4382delTCAGATTCCCG	c.(4372-4383)tcagattcccgafs	p.S1458fs	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1458					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.R1461Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGATTCAGATCGGGAATCTGACTTCCCAGTG	0.488													21	232	---	---	---	---					
MTMR14	64419	broad.mit.edu	37	3	9724894	9724896	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:9724894_9724896delCCT	uc003brz.3	+	9	1081_1083	c.930_932delCCT	c.(928-933)tacctg>tag	p.310_311YL>*	MTMR14_uc003bsa.3_In_Frame_Del_p.310_311YL>*|MTMR14_uc003bsb.3_In_Frame_Del_p.310_311YL>*|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_In_Frame_Del_p.64_65YL>*|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	310						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CACAAAACTACCTGAAGCTGCTG	0.429													71	70	---	---	---	---					
MTMR14	64419	broad.mit.edu	37	3	9724897	9724898	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:9724897_9724898insA	uc003brz.3	+	9	1084_1085	c.933_934insA	c.(931-936)ctgaagfs	p.L311fs	MTMR14_uc003bsa.3_Frame_Shift_Ins_p.L311fs|MTMR14_uc003bsb.3_Frame_Shift_Ins_p.L311fs|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Frame_Shift_Ins_p.L65fs|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	311						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AAAACTACCTGAAGCTGCTGCT	0.431													67	77	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47165390	47165391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:47165390_47165391insA	uc003cqv.3	-	2	788_789	c.702_703insT	c.(700-705)attgtafs	p.I234fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.I245fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	245	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATTCTGGTACAATTATAATTG	0.381			"""N, F, S, Mis"""		clear cell renal carcinoma								30	22	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					34	13	---	---	---	---					
AFF4	27125	broad.mit.edu	37	5	132224787	132224791	+	Frame_Shift_Del	DEL	GCTTT	GCTTT	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:132224787_132224791delGCTTT	uc003kyd.3	-	13	3120_3124	c.2712_2716delAAAGC	c.(2710-2718)acaaagcttfs	p.T904fs	AFF4_uc011cxk.2_Frame_Shift_Del_p.T582fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	904					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAAGACAAGCTTTGTTCTCCGAG	0.351													24	432	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195	by1000genomes	TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:1586653_1586654insGCC	uc003skv.4	-	8	1493_1494	c.1176_1177insGGC	c.(1174-1179)insGGC	p.392_393insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.371_372insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.197_198insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	392						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708													10	11	---	---	---	---					
CDHR3	222256	broad.mit.edu	37	7	105673047	105673047	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:105673047delG	uc003vdl.4	+	18	2670	c.2562delG	c.(2560-2562)ctgfs	p.L854fs	CDHR3_uc003vdk.3_3'UTR|CDHR3_uc003vdm.4_Frame_Shift_Del_p.L841fs|CDHR3_uc011klt.2_Frame_Shift_Del_p.L766fs|CDHR3_uc003vdn.3_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	854					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATGCTGGTCTGGGTTCCAGAA	0.552													37	133	---	---	---	---					
CBLL1	79872	broad.mit.edu	37	7	107393940	107393940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:107393940delT	uc003veq.3	+	2	596	c.266delT	c.(265-267)cttfs	p.L89fs	CBLL1_uc011kme.2_5'UTR|CBLL1_uc011kmf.2_Frame_Shift_Del_p.L88fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	89					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCTGGACACCTTTTTTGGGAC	0.284													8	356	---	---	---	---					
DLD	1738	broad.mit.edu	37	7	107556127	107556127	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:107556127delA	uc003vet.3	+	8	971	c.861delA	c.(859-861)ggafs	p.G287fs	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Frame_Shift_Del_p.G239fs|DLD_uc011kmh.2_Frame_Shift_Del_p.G264fs|DLD_uc011kmi.2_Frame_Shift_Del_p.G188fs	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	287					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AGTCAGATGGAAAAATTGATG	0.308													14	111	---	---	---	---					
SLC20A2	6575	broad.mit.edu	37	8	42302170	42302170	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr8:42302170delT	uc003xpe.3	-	5	1093	c.724delA	c.(724-726)atafs	p.I242fs	SLC20A2_uc010lxl.3_Frame_Shift_Del_p.I242fs|SLC20A2_uc010lxm.3_Frame_Shift_Del_p.I242fs|SLC20A2_uc011lcu.2_Frame_Shift_Del_p.I44fs	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	242					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATACCTGTTATTTTCCTCCGC	0.463													42	84	---	---	---	---					
SLC24A2	25769	broad.mit.edu	37	9	19516367	19516367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:19516367delA	uc003zoa.2	-	9	1923	c.1770delT	c.(1768-1770)attfs	p.I590fs	SLC24A2_uc003zob.2_Frame_Shift_Del_p.I573fs	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	590					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGAATCTGTGAATGACGGTGT	0.547													29	57	---	---	---	---					
C12orf40	283461	broad.mit.edu	37	12	40076521	40076521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:40076521delA	uc001rmc.3	+	7	962	c.795delA	c.(793-795)tcafs	p.S265fs	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	265										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAAAACACTCAATACAGCATA	0.353													36	120	---	---	---	---					
IGFBP6	3489	broad.mit.edu	37	12	53491528	53491530	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:53491528_53491530delGCT	uc001sbu.1	+	0	93_95	c.27_29delGCT	c.(25-30)ccgctg>ccg	p.L14del		NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	14					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						tgctgccaccgctgctgctgctg	0.719													7	95	---	---	---	---					
MCF2L	23263	broad.mit.edu	37	13	113719317	113719318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr13:113719317_113719318insG	uc001vsu.3	+	6	845_846	c.845_846insG	c.(844-846)ctgfs	p.L282fs	MCF2L_uc001vsq.3_Frame_Shift_Ins_p.L282fs|MCF2L_uc010tjr.2_Frame_Shift_Ins_p.L225fs|MCF2L_uc001vsr.3_Frame_Shift_Ins_p.L229fs|MCF2L_uc001vss.4_Frame_Shift_Ins_p.L223fs|MCF2L_uc010tjs.2_Frame_Shift_Ins_p.L223fs|MCF2L_uc001vst.1_Frame_Shift_Ins_p.L187fs	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	255					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGACCGAGCTGGCTGAAACAG	0.564													16	61	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:17699993_17699995delGCA	uc002grm.3	+	2	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_uc002grn.1_In_Frame_Del_p.S1249del	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1249	Poly-Ser.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626													7	53	---	---	---	---					
ANKRD30B	374860	broad.mit.edu	37	18	14837637	14837637	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr18:14837637delG	uc010dlo.2	+	29	2773	c.2593delG	c.(2593-2595)ggafs	p.G865fs	ANKRD30B_uc021uhy.1_Frame_Shift_Del_p.G865fs|ANKRD30B_uc010xal.1_Frame_Shift_Del_p.G7fs	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	950										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGAATTAGGAAGAAAAGA	0.264													8	350	---	---	---	---					
PIR	8544	broad.mit.edu	37	X	15403223	15403224	+	In_Frame_Ins	INS	-	-	TCA			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:15403223_15403224insTCA	uc004cwu.3	-	9	1260_1261	c.775_776insTGA	c.(775-777)aac>aTGAac	p.258_259insM	FIGF_uc022bth.1_Intron|PIR_uc004cwv.3_In_Frame_Ins_p.258_259insM|FIGF_uc004cwt.2_5'Flank	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.	258					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TTCATTGGTGTTCATCACAAAT	0.376													9	19	---	---	---	---					
