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
TRPM2	7226	broad.mit.edu	37	21	45774548	45774548	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr21:45774548G>A	uc010gpt.1	+	1	283	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_uc002zet.1_Silent_p.S61S|TRPM2_uc002zeu.1_Silent_p.S61S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.S61S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	61						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTCAGTTCGTGGATTCCTG	0.458000													11	94					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18871031	18871031	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18871031C>T	uc010ebv.3	+	8	1015	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CRTC1_uc002nkb.4_Silent_p.A293A|CRTC1_uc010ebw.3_Silent_p.A158A	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	293	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCGGTGGCGCCGGCCAGGGTA	0.667000													9	17					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38065246	38065246	+	Missense_Mutation	SNP	C	C	G	rs150045830	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:38065246C>G	uc003xky.2	+	2	877	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_uc003xkz.2_Missense_Mutation_p.P163A	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	199					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGAAGCACCCCCTCTTAGGGG	0.488000													25	35					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:39274291T>C	uc002hvz.3	-	0	316	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(8)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	89					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669721	158669721	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:158669721G>A	uc001fsu.1	-	0	722	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAGACACACGTGGAAAATGC	0.463000													40	46					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44019524	44019524	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:44019524G>A	uc001cjr.3	+	4	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_uc001cjq.4_Silent_p.R97R|PTPRF_uc001cjs.3_Silent_p.R97R|PTPRF_uc001cjt.4_Silent_p.R97R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCATTGCGGGTGCAGCGAG	0.542000													3	39					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55075828	55075828	+	Missense_Mutation	SNP	C	C	T	rs137993034		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:55075828C>T	uc003jqg.4	+	7	530	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_uc010ivz.3_Missense_Mutation_p.P124L|DDX4_uc003jqh.4_Intron|DDX4_uc003jqj.3_Intron	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	144	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCAGGGCCATACAGAAGA	0.413000													10	35					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294828	128294828	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:128294828G>A	uc003qbk.3	-	27	4478	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	PTPRK_uc010kfc.3_Missense_Mutation_p.R1378W|PTPRK_uc003qbj.3_Missense_Mutation_p.R1372W|PTPRK_uc011ebu.2_Missense_Mutation_p.R1394W	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1371	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATAATCGTCCGGCCTTCCCCT	0.483000													5	107					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129758574	129758574	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:129758574C>A	uc001qfg.3	-	1	412	c.291G>T	c.(289-291)caG>caT	p.Q97H	NFRKB_uc001qfi.3_Missense_Mutation_p.Q84H|NFRKB_uc001qfh.3_Missense_Mutation_p.Q107H|NFRKB_uc010sbw.1_Missense_Mutation_p.Q84H	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	84					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCATTCTGCTGCTCAGCAC	0.488000													4	79					0.150653	0.150653	1	1	0
TRMT1	55621	broad.mit.edu	37	19	13220750	13220750	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:13220750G>A	uc002mwj.2	-	7	1335	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Intron|TRMT1_uc002mwl.3_Missense_Mutation_p.A362V|TRMT1_uc010xmz.1_Missense_Mutation_p.A148V	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	362							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTCCTGACGCTTTGCCGAG	0.652000													10	171					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71733448	71733448	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:71733448T>G	uc001orl.1	-	6	481	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_uc001ork.1_Missense_Mutation_p.L103F|NUMA1_uc001orm.1_Missense_Mutation_p.L103F|NUMA1_uc009ysx.1_Missense_Mutation_p.L103F|NUMA1_uc001oro.1_Missense_Mutation_p.L103F|NUMA1_uc009ysy.2_Missense_Mutation_p.L103F|NUMA1_uc001orp.3_Missense_Mutation_p.L103F|NUMA1_uc001orq.3_Missense_Mutation_p.L103F|NUMA1_uc021qmw.1_Missense_Mutation_p.L103F	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	103					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TAGAGTGGTATAAGAGCAGCA	0.522000			T	RARA	APL								6	189					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413602	68413602	+	RNA	SNP	A	A	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:68413602A>G	uc004aex.3	+	0		c.157A>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCTTTTGCTGAAACTCTGGGG	0.602000													4	9					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57153020	57153020	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:57153020C>A	uc002iwy.4	-	7	1116	c.672G>T	c.(670-672)gaG>gaT	p.E224D	TRIM37_uc002iwz.4_Missense_Mutation_p.E224D|TRIM37_uc002ixa.4_Missense_Mutation_p.E102D|TRIM37_uc010woc.2_Missense_Mutation_p.E190D	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	224						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGCTCCACCTCCTGAAGTA	0.323000									Mulibrey Nanism				3	39					0.00909568	0.00934834	1	1	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													16	35					0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18387258G>A	uc002gtw.3	+	1	179	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_uc010vyb.2_Intron	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562000													7	90					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40322247	40322247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:40322247C>T	uc002hzb.2	-	7	1601	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	423					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGGCGCTGCGCCGTGATGG	0.622000													20	35					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311344	311344	+	RNA	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrGL000192.1:311344C>T	uc010yij.1	-	6		c.1025G>A			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTTGCTGCAATTAAGAGC	0.577000													4	62					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	28					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70229866	70229866	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:70229866T>C	uc003tvw.4	+	7	2078	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_uc003tvx.4_Missense_Mutation_p.L448P|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	448										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		acacccaccctccagcccccc	0.652000													5	43					0	0	1	0	0
TAMM41	132001	broad.mit.edu	37	3	11887995	11887995	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:11887995C>T	uc011auo.1	-	0	358	c.116G>A	c.(115-117)gGg>gAg	p.G39E	TAMM41_uc003bwh.3_Missense_Mutation_p.G39E|TAMM41_uc003bwi.3_Non-coding_Transcript|TAMM41_uc011aup.1_Non-coding_Transcript|TAMM41_uc010hdy.1_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	Homo sapiens TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) (TAMM41), nuclear gene encoding mitochondrial protein, mRNA.	39					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											TGAACTCGGCCCTGCCTGGCG	0.622000													49	83					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:140763850G>A	uc003lka.2	+	0	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.A462T	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	464	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522000													4	60					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968249	18968249	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18968249C>T	uc002nkg.3	+	14	2397	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	UPF1_uc002nkf.3_Missense_Mutation_p.R697C|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	708					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGGCCCATCCGCCTGCAGGT	0.642000													43	54					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	77					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	Silent	SNP	G	G	T	rs115439852	by1000genomes	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:70713742G>T	uc010ttg.2	-	0	777	c.126C>A	c.(124-126)ctC>ctA	p.L42L						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CCACAACAACGAGCTCCAGAA	0.433000													5	103					1.26484e-09	1.3565e-09	1	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482639	159482639	+	Silent	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:159482639C>A	uc003fcq.2	+	4	880	c.699C>A	c.(697-699)ccC>ccA	p.P233P	IQCJ-SCHIP1_uc003fcr.2_Silent_p.P206P|IQCJ-SCHIP1_uc003fcs.2_Silent_p.P157P|IQCJ-SCHIP1_uc003fct.2_Silent_p.P157P|IQCJ-SCHIP1_uc021xgm.1_Intron|IQCJ-SCHIP1_uc010hvz.1_Silent_p.P130P	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	157						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGCACGACCCCCAGGACCTCA	0.756000													7	10					0.0381472	0.0386698	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													8	156					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271838	15271838	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:15271838G>A	uc002nan.3	-	32	6677	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGACGGGGGTCCCTGGG	0.741000													7	6					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75277978	75277978	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:75277978C>T	uc001owr.3	+	1	882	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_uc009yuf.3_Missense_Mutation_p.T195M|SERPINH1_uc009yug.3_Missense_Mutation_p.T195M|SERPINH1_uc001ows.3_Missense_Mutation_p.T195M|SERPINH1_uc001owt.3_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	195					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGAGCGCACGGACGGCGCC	0.662000													28	85					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24651580	24651580	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:24651580G>A	uc001wmv.1	-	24	3523	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	IPO4_uc001wmt.1_Silent_p.H312H|IPO4_uc001wmu.2_Silent_p.H496H|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.H698H|IPO4_uc001wmy.1_Silent_p.H698H|IPO4_uc001wmz.2_Silent_p.H834H	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	834					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCTCCAGCGTGCTCCAGCA	0.622000													17	27					0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45925200	45925200	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45925200G>A	uc002imh.1	-	1	874	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_uc002img.1_Missense_Mutation_p.S199F|SP6_uc021tzc.1_Missense_Mutation_p.S199F	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGCCCTTGAGACTCCGGGGC	0.716000													11	15					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:47566657G>A	uc002leb.2	-	2	454	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	MYO5B_uc021ukb.1_Missense_Mutation_p.R55C	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	56	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423000													121	225					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000													5	35					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233714984	233714984	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:233714984G>A	uc002vtj.4	+	29	4027	c.3760G>A	c.(3760-3762)Ggg>Agg	p.G1254R	GIGYF2_uc002vti.4_Missense_Mutation_p.G1233R|GIGYF2_uc002vtk.4_Missense_Mutation_p.G1233R|GIGYF2_uc002vth.4_Missense_Mutation_p.G1227R|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc002vtq.4_Missense_Mutation_p.G566R	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1233					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTCTGTGTGGGGGATGAACCA	0.433000													6	100					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568267	7568267	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:7568267C>T	uc002cys.2	+	4	1134	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RBFOX1_uc010buf.1_Missense_Mutation_p.A49V|RBFOX1_uc002cyr.1_Missense_Mutation_p.A49V|RBFOX1_uc002cyt.2_Missense_Mutation_p.A49V|RBFOX1_uc010uxz.1_Missense_Mutation_p.A92V|RBFOX1_uc010uya.1_Missense_Mutation_p.A85V|RBFOX1_uc002cyv.1_Missense_Mutation_p.A49V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A49V|RBFOX1_uc002cyw.2_Missense_Mutation_p.A69V|RBFOX1_uc002cyy.2_Missense_Mutation_p.A69V|RBFOX1_uc002cyx.2_Missense_Mutation_p.A69V|RBFOX1_uc010uyc.1_Missense_Mutation_p.A69V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	49					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657000													108	153					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206904037	206904037	+	Silent	SNP	A	A	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:206904037A>C	uc001hem.2	+	5	906	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_uc001hel.2_Silent_p.P232P	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	232	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGCAGCTCCAGAAGTGCTGG	0.552000													27	55					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18053797G>A	uc021trm.1	+	34	7486	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_uc021trl.1_Missense_Mutation_p.G2421S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617000													33	64					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100373800	100373800	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:100373800G>A	uc003duc.3	+	11	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_uc011bhc.2_Missense_Mutation_p.G202S|GPR128_uc003dud.3_Missense_Mutation_p.G24S	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACAAGTGATGGTGACATCAA	0.408000													58	77					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313698	162313698	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:162313698C>T	uc001gbv.2	+	5	914	c.527C>T	c.(526-528)aCg>aTg	p.T176M	NOS1AP_uc010pkr.1_Missense_Mutation_p.T171M|NOS1AP_uc001gbw.2_Missense_Mutation_p.T171M|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	176	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCAGCACACGCAGCAGAAT	0.582000													49	73					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150793999	150793999	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:150793999T>C	uc004fev.4	+	7	958	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	209						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGAGCTCAGGTGAGAG	0.333000													70	217					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202705465	202705465	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:202705465C>T	uc009xag.3	-	21	3364	c.3248G>A	c.(3247-3249)cGa>cAa	p.R1083Q	KDM5B_uc001gyf.3_Missense_Mutation_p.R1047Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R889Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1047					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGGGATAGATCGGCCTCGTGT	0.428000													10	63					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000													5	22					0	0	1	0	0
C1orf9	51430	broad.mit.edu	37	1	172558108	172558108	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:172558108A>G	uc001giq.4	+	17	2183	c.1867A>G	c.(1867-1869)Att>Gtt	p.I623V	C1orf9_uc010pmm.1_Missense_Mutation_p.I623V|C1orf9_uc009wwd.3_Missense_Mutation_p.I579V|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	623					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACTGACCACAATTTGTTGTAT	0.413000													18	24					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2525	2525	+	RNA	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrGL000237.1:2525C>T	uc011mgu.1	-	0		c.162G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctcaggccaccctcctaacac	0.637000													6	37					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641424	99641424	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:99641424C>T	uc001yga.3	-	3	2016	c.1749G>A	c.(1747-1749)gcG>gcA	p.A583A	BCL11B_uc001ygb.3_Silent_p.A512A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	583	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731000			T	TLX3	T-ALL								25	26					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67993430	67993430	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:67993430G>A	uc002lkr.1	+	1	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_uc010dqq.2_Missense_Mutation_p.R509H|SOCS6_uc021ulj.1_Missense_Mutation_p.R509H	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	509	SOCS box.				JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTTGTTATACGTCAGTATACC	0.468000													34	51					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162851494	162851494	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:162851494C>T	uc002ubz.3	-	24	2737	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_uc010fpb.3_Missense_Mutation_p.V402I	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	726					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCCACTCCAACATCGACCAGG	0.453000													4	69					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2603	2603	+	RNA	SNP	C	C	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrGL000237.1:2603C>G	uc011mgu.1	-	0		c.84G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gttacaggctccagcctccag	0.612000													4	33					0	0	1	0	0
LYPLA1	10434	broad.mit.edu	37	8	54963679	54963679	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:54963679G>A	uc003xry.3	-	7	726	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_uc011ldx.2_Missense_Mutation_p.P139S|LYPLA1_uc003xrz.3_Missense_Mutation_p.P157S	NM_006330	NP_006321	O75608	LYPA1_HUMAN	Homo sapiens lysophospholipase I (LYPLA1), mRNA.	178					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	p.V177V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATCAGGGGAACCAAAGGG	0.413000													5	88					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132086622	132086622	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:132086622C>T	uc003eop.4	+	10	1303	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194	NP_001127666	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 2, mRNA.	0						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCCACATTCGCCGTGGACT	0.463000													84	209					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90631839T>C	uc002box.3	-	3	600	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_uc010uqb.2_Missense_Mutation_p.R120G|IDH2_uc010uqc.2_Missense_Mutation_p.R42G	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(242)|p.R172W(28)|p.R172M(23)|p.R172S(18)|p.R172?(13)|p.R172G(7)|p.G171D(4)|p.R172L(1)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627000			M		GBM								37	56					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451739	55451739	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:55451739C>T	uc002qih.4	-	3	524	c.448G>A	c.(448-450)Gtc>Atc	p.V150I	NLRP7_uc010esk.3_Missense_Mutation_p.V150I|NLRP7_uc002qig.4_Missense_Mutation_p.V150I|NLRP7_uc002qii.4_Missense_Mutation_p.V150I|NLRP7_uc010esl.3_Missense_Mutation_p.V178I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	150							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGAGTGACGTCGTCATGG	0.498000													144	70					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24324984	24324984	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:24324984C>T	uc003sww.2	+	1	213	c.125C>T	c.(124-126)gCg>gTg	p.A42V		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	42					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity	p.A42V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682000													7	93					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500810	66500810	+	RNA	SNP	G	G	A	rs142815546	by1000genomes	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:66500810G>A	uc004aed.1	+	2		c.903G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		ACCTACGGTCGGTTGTGTGCA	0.637000													8	45					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284511	46284511	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:46284511G>A	uc002ldd.3	+	8	1165	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_uc002ldc.3_Missense_Mutation_p.R269H|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	269	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGCGCACACCGCAATGCCAAA	0.642000													5	82					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860910	16860910	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:16860910C>T	uc002neu.4	+	5	1879	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_uc002net.4_Missense_Mutation_p.P351L|NWD1_uc002nev.4_Missense_Mutation_p.P280L|NWD1_uc021uqg.1_Missense_Mutation_p.P351L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	486	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGGACCCGGAGGCCTAC	0.647000													7	125					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136465	116136465	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:116136465C>T	uc022bme.1	-	0	170	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_uc004bhi.1_Missense_Mutation_p.S57N|HDHD3_uc004bhk.3_Missense_Mutation_p.S57N	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	57							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GAAGCTGTGGCTCTGAGCCCT	0.657000													26	37					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290533	74290533	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:74290533C>T	uc002awv.3	+	1	458	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_uc002awj.1_Silent_p.N106N|PML_uc002awm.3_Silent_p.N106N|PML_uc002awl.3_Silent_p.N106N|PML_uc002awk.3_Silent_p.N106N|PML_uc002awn.3_Silent_p.N106N|PML_uc002awo.3_Silent_p.N106N|PML_uc002awp.3_Silent_p.N106N|PML_uc002awq.3_Silent_p.N106N|PML_uc002awr.3_Silent_p.N106N|PML_uc002aws.3_Silent_p.N106N|PML_uc002awt.3_Silent_p.N106N|PML_uc002awu.3_Silent_p.N106N|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.N21N	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	106					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCTGGATAACGTCTTTTTCG	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""								5	77					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:154842199_154842200insGCTGCT	uc021pah.1	-	0	555_556	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_uc001ffp.3_In_Frame_Ins_p.80_81insQQ|KCNN3_uc009wox.1_In_Frame_Ins_p.80_81insQQ	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(4)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													9	12	---	---	---	---					
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:74757185_74757186insG	uc002smi.1	+	0	654_655	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002smk.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002sml.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													17	141	---	---	---	---					
REV1	51455	broad.mit.edu	37	2	100055074	100055076	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:100055074_100055076delACA	uc002tad.3	-	5	1412_1414	c.1200_1202delTGT	c.(1198-1203)gttgta>gta	p.400_401VV>V	REV1_uc002tac.3_In_Frame_Del_p.400_401VV>V|REV1_uc002tae.1_In_Frame_Del_p.379_380VV>V	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	400					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						TGTGTCAGTTACAACAAGTGCAG	0.335								Direct reversal of damage					26	48	---	---	---	---					
SMPD4	55627	broad.mit.edu	37	2	130930223	130930225	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:130930223_130930225delAAG	uc002tqq.2	-	6	1746_1748	c.597_599delCTT	c.(595-600)ttcttt>ttt	p.199_200FF>F	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_In_Frame_Del_p.67_68FF>F|SMPD4_uc002tqr.2_In_Frame_Del_p.199_200FF>F|SMPD4_uc010zaa.2_In_Frame_Del_p.86_87FF>F|SMPD4_uc010zab.2_In_Frame_Del_p.126_127FF>F|SMPD4_uc002tqt.2_In_Frame_Del_p.77_78FF>F|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	160					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity	p.F199L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	gctcaaggcaaagaagaatatgt	0.571													15	127	---	---	---	---					
GPR156	165829	broad.mit.edu	37	3	119885960	119885960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:119885960delC	uc011bjf.2	-	8	2744	c.2364delG	c.(2362-2364)gggfs	p.G788fs	GPR156_uc011bjg.2_Frame_Shift_Del_p.G784fs	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	788						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAAGCCAGCCCCCCAGTAG	0.552													9	466	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26426014	26426017	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr4:26426014_26426017delCAGA	uc003grx.2	+	6	822_825	c.586_589delCAGA	c.(586-591)cagacafs	p.Q196fs	RBPJ_uc003gry.2_Frame_Shift_Del_p.Q181fs|RBPJ_uc003grz.2_Frame_Shift_Del_p.Q196fs|RBPJ_uc011bxt.2_Frame_Shift_Del_p.Q196fs|RBPJ_uc003gsa.2_Frame_Shift_Del_p.Q182fs|RBPJ_uc003gsb.2_Frame_Shift_Del_p.Q183fs	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	196					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACTACGATCCCAGACAGTTAGTAC	0.422													41	31	---	---	---	---					
HBEGF	1839	broad.mit.edu	37	5	139715486	139715489	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:139715486_139715489delCAGA	uc003lfi.3	-	3	797_800	c.522_525delTCTG	c.(520-525)tgtctgfs	p.C174fs	HBEGF_uc010jfj.3_Non-coding_Transcript	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	Homo sapiens heparin-binding EGF-like growth factor (HBEGF), mRNA.	174					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGACCAGCAGACAGACAGATG	0.554													11	109	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													11	260	---	---	---	---					
MARCKS	4082	broad.mit.edu	37	6	114181210	114181210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:114181210delA	uc003pvy.4	+	1	849	c.454delA	c.(454-456)aaafs	p.K152fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	152	Calmodulin-binding (PSD).				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGAGACCCCGAAAAAAAAAAA	0.612													7	28	---	---	---	---					
TCF7L2	6934	broad.mit.edu	37	10	114911515	114911517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr10:114911515_114911517delAAG	uc021pyi.1	+	9	1540_1542	c.1033_1035delAAG	c.(1033-1035)aagdel	p.K347del	TCF7L2_uc001lah.3_In_Frame_Del_p.K329del|TCF7L2_uc010qro.2_In_Frame_Del_p.K324del|TCF7L2_uc001lae.4_In_Frame_Del_p.K347del|TCF7L2_uc010qrm.2_In_Frame_Del_p.K347del|TCF7L2_uc010qrn.2_In_Frame_Del_p.K290del|TCF7L2_uc021pyg.1_In_Frame_Del_p.K63del|TCF7L2_uc021pyh.1_In_Frame_Del_p.K329del|TCF7L2_uc021pyj.1_In_Frame_Del_p.K347del|TCF7L2_uc021pyk.1_In_Frame_Del_p.K329del|TCF7L2_uc021pyl.1_In_Frame_Del_p.K329del|TCF7L2_uc010qrp.2_In_Frame_Del_p.K324del|TCF7L2_uc021pym.1_In_Frame_Del_p.K320del|TCF7L2_uc021pyn.1_In_Frame_Del_p.K352del|TCF7L2_uc021pyo.1_In_Frame_Del_p.K352del|TCF7L2_uc021pyp.1_In_Frame_Del_p.K343del|TCF7L2_uc010qrq.2_In_Frame_Del_p.K320del|TCF7L2_uc001lac.4_In_Frame_Del_p.K324del|TCF7L2_uc010qrk.2_In_Frame_Del_p.K324del|TCF7L2_uc001lad.4_In_Frame_Del_p.K320del|TCF7L2_uc001lag.4_In_Frame_Del_p.K371del|TCF7L2_uc001laf.4_In_Frame_Del_p.K324del|TCF7L2_uc010qrl.2_In_Frame_Del_p.K324del|TCF7L2_uc010qrr.2_In_Frame_Del_p.K262del|TCF7L2_uc010qrs.2_In_Frame_Del_p.K218del|TCF7L2_uc010qrt.2_In_Frame_Del_p.K218del|TCF7L2_uc010qru.2_In_Frame_Del_p.K246del|TCF7L2_uc010qrv.2_In_Frame_Del_p.K164del|TCF7L2_uc010qrw.2_In_Frame_Del_p.K51del|TCF7L2_uc010qrx.2_In_Frame_Del_p.K204del|Mir_652_uc021pyq.1_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	347	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGAAGAAGAAAAGAAGAAGCCCC	0.443			T	VTI1A	colorectal								19	56	---	---	---	---					
FKBP3	2287	broad.mit.edu	37	14	45590142	45590144	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:45590142_45590144delTTC	uc010tqf.2	-	4	818_820	c.468_470delGAA	c.(466-471)aagaaa>aaa	p.156_157KK>K		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	156	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGGCATTTTTCTTCTTCTTTG	0.320													23	57	---	---	---	---					
AK304826	0	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:18441114_18441116delCAC	uc010bvw.2	-	7	1784	c.1128_splice	c.e7+1	p.V376_splice	NPIP_uc021tdy.1_Intron					SubName: Full=cDNA FLJ59085, highly similar to Polycystin-1;																		CGGCCATACTCACCACTGGGACT	0.709													6	11	---	---	---	---					
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:89613072_89613073insG	uc002fnj.3	+	10	1477_1478	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs	SPG7_uc002fnk.1_Non-coding_Transcript	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R485S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594													9	268	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													7	31	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42799067	42799069	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:42799067_42799069delGAT	uc002otf.1	+	19	4591_4593	c.4551_4553delGAT	c.(4549-4554)aagatc>aac	p.1517_1518KI>N		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.K1517delK(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCGCCAGAAGATCATGCAGGCT	0.650			"""Mis, F, S"""		oligodendroglioma								44	36	---	---	---	---					
RBBP7	5931	broad.mit.edu	37	X	16887194	16887197	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:16887194_16887197delCTTA	uc004cxt.3	-	2	519	c.161_splice	c.e2+1	p.K54_splice	RBBP7_uc004cxs.2_Splice_Site_p.K98_splice	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	54					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCCAGAAACCCTTACTTAGTCACT	0.392													37	52	---	---	---	---					
