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	ENST00000397928.1	+	2	628	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300481.9_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	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	ENST00000338797.6	+	9	952	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CRTC1_ENST00000594658.1_Silent_p.A252A|CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000321949.8_Silent_p.A293A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	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	ENST00000287322.4	+	3	866	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.P163A	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	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
LL22NC03-80A10.6	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	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	22					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	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		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	ENST00000359610.2	-	1	765	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	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	ENST00000359947.4	+	5	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_ENST00000438120.1_Silent_p.R97R|PTPRF_ENST00000372413.3_Silent_p.R97R|PTPRF_ENST00000372414.3_Silent_p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	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	ENST00000505374.1	+	8	523	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	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	ENST00000368227.3	-	29	4531	c.4165C>T	c.(4165-4167)Cgg>Tgg	p.R1389W	PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1371W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1371	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|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
TRBV6-7	0	broad.mit.edu	37	7	142144058	142144058	+	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.chr7:142144058C>T	ENST00000390373.2	-	0	26																											GAGAAAAGGCCACACAGCACA	0.602000													5	274					0	0	1	0	0
MID1	0	broad.mit.edu	37	X	10417629	10417629	+	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:10417629T>C	ENST00000317552.4	-	10	2183	c.1783A>G	c.(1783-1785)Att>Gtt	p.I595V	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380780.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	595	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCAGGCTCAATGGGGATTTCC	0.547000													5	143					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	ENST00000446488.3	-	3	355	c.252G>T	c.(250-252)caG>caT	p.Q84H	NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	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
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	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.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000													4	182					0	0	1	0	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	ENST00000592062.1	-	10	1655	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V|TRMT1_ENST00000221504.8_Intron			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	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	0	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	ENST00000393695.3	-	7	640	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	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
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	ENST00000376149.3	-	8	1115	c.306G>T	c.(304-306)gaG>gaT	p.E102D	TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D|TRIM37_ENST00000262294.7_Missense_Mutation_p.E224D			O94972	TRI37_HUMAN	tripartite motif containing 37	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	0.00932026	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	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice			Q9P0N5	TM216_HUMAN	transmembrane protein 216	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	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	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	ENST00000264661.3	-	8	1600	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	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
ACSM4	341392	broad.mit.edu	37	12	7457055	7457055	+	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.chr12:7457055G>A	ENST00000399422.4	+	1	176	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	43					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCCATAAATCGCTGTAACAGG	0.483000													5	149					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	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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	ENST00000342771.4	+	8	1664	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	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	ENST00000444133.2	-	1	258	c.116G>A	c.(115-117)gGg>gAg	p.G39E	TAMM41_ENST00000273037.5_Missense_Mutation_p.G39E|TAMM41_ENST00000455809.1_Missense_Mutation_p.G39E			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	39					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											TGAACTCGGCCCTGCCTGGCG	0.622000													49	83					0	0	1	0	0
PCDHGA7	0	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	ENST00000518325.1	+	1	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			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	ENST00000262803.5	+	15	2361	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	UPF1_ENST00000599848.1_Missense_Mutation_p.R708C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						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	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	77					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70713742	70713742	+	RNA	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	ENST00000530196.1	-	0	776					NR_003951.1																						CCACAACAACGAGCTCCAGAA	0.433000													5	103					1.26484e-09	1.34592e-09	1	1	0
IQCJ-SCHIP1	0	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	ENST00000337808.6	+	2	1048	c.471C>A	c.(469-471)ccC>ccA	p.P157P	IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P157P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P130P|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P206P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P233P	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		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	0.0386124	1	1	0
FRG1B	0	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	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														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
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	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.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587000													7	39					9.80977e-26	1.07133e-25	1	1	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	ENST00000524558.1	+	2	2019	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	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	ENST00000354464.6	-	25	2678	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	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	ENST00000536300.1	-	2	927	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_ENST00000342234.2_Missense_Mutation_p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	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	ENST00000285039.7	-	3	465	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	56	Myosin head-like.				protein transport	myosin complex	actin binding|ATP 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
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	ENST00000373566.3	+	29	3960	c.3763G>A	c.(3763-3765)Ggg>Agg	p.G1255R	GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000409547.1_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	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	ENST00000340209.4	+	2	458	c.161C>T	c.(160-162)gCg>gTg	p.A54V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA 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	ENST00000367103.3	+	6	889	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_ENST00000294981.4_Silent_p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	232	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|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
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	ENST00000370357.4	+	8	871	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	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
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	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP 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
KSR1	8844	broad.mit.edu	37	17	25783753	25783753	+	Silent	SNP	A	A	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.chr17:25783753A>T	ENST00000319524.6	+	1	84	c.84A>T	c.(82-84)ggA>ggT	p.G28G	KSR1_ENST00000509603.2_Silent_p.G28G			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	26					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGCGGAGGGAGGCGCAGGGG	0.741000													3	30					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	ENST00000273352.3	+	12	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.G206S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	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	ENST00000361897.5	+	6	929	c.527C>T	c.(526-528)aCg>aTg	p.T176M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	176	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain 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
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	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.chr2:128471489A>C	ENST00000322313.4	-	18	3134	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	992					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662000													24	181					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	ENST00000367265.3	-	21	4304	c.3140G>A	c.(3139-3141)cGa>cAa	p.R1047Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	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
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	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.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	179					0	0	1	0	0
SUCO	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	ENST00000367723.3	+	17	2447	c.2323A>G	c.(2323-2325)Att>Gtt	p.I775V	SUCO_ENST00000263688.3_Missense_Mutation_p.I623V	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ACTGACCACAATTTGTTGTAT	0.413000													18	24					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	ENST00000345514.2	-	3	1802	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	BCL11B_ENST00000443726.2_Silent_p.A389A|BCL11B_ENST00000357195.3_Silent_p.A583A	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	583						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	ENST00000397942.3	+	2	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	509	SOCS box.				defense response|JAK-STAT cascade|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
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	ENST00000263388.2	-	33	6676	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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
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	ENST00000360534.3	-	25	2736	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	726					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|T cell activation|T cell costimulation	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
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	ENST00000316963.3	-	8	725	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_ENST00000522007.1_Silent_p.F57F|LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	178					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			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	ENST00000351273.7	+	11	1263	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	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	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		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	ENST00000446217.1	-	6	934	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V150I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	150	NACHT.						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
GZMB	3002	broad.mit.edu	37	14	25102230	25102230	+	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.chr14:25102230G>A	ENST00000216341.4	-	2	200	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	32	Peptidase S1.			RP -> PR (in Ref. 12; AA sequence).	activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		ATGTAGGGGCGGGAGTGGGGC	0.562000													6	200					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	ENST00000407573.1	+	3	415	c.125C>T	c.(124-126)gCg>gTg	p.A42V	NPY_ENST00000242152.2_Missense_Mutation_p.A42V|NPY_ENST00000405982.1_Missense_Mutation_p.A42V			P01303	NPY_HUMAN	neuropeptide Y	42					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	p.A42V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682000													7	93					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	ENST00000256413.3	+	8	1101	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	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	ENST00000524140.2	+	6	1875	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_ENST00000523826.1_Missense_Mutation_p.P280L|NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000552788.1_Missense_Mutation_p.P486L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	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	ENST00000238379.5	-	2	1067	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	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	ENST00000565898.1	+	2	402	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000268058.3_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N			P29590	PML_HUMAN	promyelocytic leukemia	106					cell cycle arrest|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|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|PML body organization|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	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|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	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		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	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)ggcfs	p.G18fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	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	ENST00000258428.3	-	6	1428_1430	c.1200_1202delTGT	c.(1198-1203)gta>gt	p.VV400del	REV1_ENST00000393445.3_In_Frame_Del_p.VV400del|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	400					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|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	ENST00000409031.1	-	7	1745_1747	c.597_599delCTT	c.(595-600)ttt>tt	p.FF199del	SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_In_Frame_Del_p.FF86del|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.FF126del|SMPD4_ENST00000351288.6_In_Frame_Del_p.FF199del|SMPD4_ENST00000452225.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	160					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			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	ENST00000464295.1	-	10	2809	c.2364delG	c.(2362-2364)ggfs	p.G788fs	GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs|GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	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	ENST00000342320.4	+	6	720_723	c.544_547delCAGA	c.(544-549)cafs	p.QT182fs	RBPJ_ENST00000361572.6_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	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	ENST00000230990.6	-	4	824_827	c.522_525delTCTG	c.(520-525)tgfs	p.CL174fs	HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	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	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	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	ENST00000368635.4	+	2	835	c.454delA	c.(454-456)aafs	p.K156fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	156	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	ENST00000545257.1	+	10	1540_1542	c.1033_1035delAAG	c.(1033-1035)del	p.K347del	TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355995.4_In_Frame_Del_p.K347del|TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	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	beta-catenin-TCF7L2 complex|PML body|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	ENST00000216330.3	-	6	878_880	c.468_470delGAA	c.(466-471)aaa>aa	p.KK156del	FKBP3_ENST00000396062.3_In_Frame_Del_p.KK156del			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	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	---	---	---	---					
NPIPA8	101059953	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	ENST00000339303.5	-	1	15		c.e1+1							nuclear pore complex interacting protein family, member A8																		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	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)ggafs	p.G486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	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			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	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					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	---	---	---	---					
PDE4C	5143	broad.mit.edu	37	19	18337211	18337211	+	Frame_Shift_Del	DEL	G	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.chr19:18337211delG	ENST00000262805.11	-	1	74	c.15delC	c.(13-15)ccfs	p.P5fs	PDE4C_ENST00000594465.2_Intron|PDE4C_ENST00000594617.2_Intron|PDE4C_ENST00000355502.3_Intron	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	0					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	gggcgggcgcgggggggcccT	0.761													2	4	---	---	---	---					
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	ENST00000572681.2	+	21	7337_7339	c.7269_7271delGAT	c.(7267-7272)aac>aa	p.KI2423del	CIC_ENST00000160740.3_In_Frame_Del_p.KI1515del|CIC_ENST00000575354.2_In_Frame_Del_p.KI1517del			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				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	ENST00000380087.2	-	2	522		c.e2+1		RBBP7_ENST00000380084.4_Splice_Site|RBBP7_ENST00000404022.1_Splice_Site			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|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	---	---	---	---