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
CENPF	1063	broad.mit.edu	37	1	214830302	214830302	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:214830302G>A	ENST00000366955.3	+	18	8680	c.8512G>A	c.(8512-8514)Gaa>Aaa	p.E2838K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2934	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAGGTCGATGAATTAACAAC	0.388000													11	40					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49689081	49689081	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:49689081C>T	ENST00000257860.4	+	1	1597	c.98C>T	c.(97-99)tCc>tTc	p.S33F	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	33	Head.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GGGGCCTTCTCCTACTCGTCC	0.711000													3	18					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:65376868G>T	ENST00000330909.8	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567000													17	55					0.000566183	0.000580338	1	1	0
NAA10	8260	broad.mit.edu	37	X	153197564	153197564	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:153197564G>A	ENST00000464845.1	-	6	664	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	NAA10_ENST00000370015.4_Missense_Mutation_p.R116W|NAA10_ENST00000393712.3_Missense_Mutation_p.R116W|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370009.1_Intron	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	116	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						AGGGCGGCCCGGTTACTGCAG	0.592000													32	112					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31405583	31405583	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:31405583C>T	ENST00000389202.2	+	2	107	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	20					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGATTCAACCTGGATGTGGA	0.572000													5	29					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64337172	64337172	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:64337172G>A	ENST00000301891.4	+	9	1805	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.M369I	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	477					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGGGGGCTATGATGGGTCCCC	0.607000													23	87					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11340299	11340299	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:11340299C>T	ENST00000354449.3	+	2	155	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.P44S|ATG7_ENST00000354956.5_Missense_Mutation_p.P44S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	44					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGATGAAGCTCCCAAGGACAT	0.438000													37	135					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58740881	58740881	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:58740881C>T	ENST00000305921.3	+	6	2018	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	596					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCCTTTACTTCATCAACACAG	0.428000													11	75					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239810	21239810	+	Silent	SNP	T	T	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:21239810T>C	ENST00000261560.5	+	5	877	c.696T>C	c.(694-696)tcT>tcC	p.S232S		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGGAAAATTCTTACCAATGTG	0.333000													7	33					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14482691	14482691	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:14482691G>T	ENST00000344204.4	+	46	6490	c.6466G>T	c.(6466-6468)Ggg>Tgg	p.G2156W	TRIO_ENST00000537187.1_Splice_Site_p.G2156W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2156					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTGTTTTAGGGGAAAATCGT	0.443000													6	32					0.00116845	0.0011917	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4100767	4100767	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:4100767G>A	ENST00000341657.4	-	8	1039	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	ANKFY1_ENST00000433651.1_Missense_Mutation_p.S335L|ANKFY1_ENST00000570535.1_Missense_Mutation_p.S377L|ANKFY1_ENST00000574367.1_Missense_Mutation_p.S335L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	335						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGTTTCTTTGAACTGTACAA	0.547000													5	38					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67558979	67558979	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:67558979C>G	ENST00000371007.2	-	8	1021	c.912G>C	c.(910-912)caG>caC	p.Q304H	C1orf141_ENST00000544837.1_Missense_Mutation_p.Q304H|C1orf141_ENST00000371006.1_Missense_Mutation_p.Q304H	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	304								p.Q304Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTAGTGTCTGCTTATTAG	0.343000													8	100					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612099	142612099	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:142612099G>T	ENST00000265310.1	-	11	1752	c.1404C>A	c.(1402-1404)ttC>ttA	p.F468L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	468					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATCCTCGAGTGAAATACATGA	0.567000													6	56					2.7689e-08	2.94106e-08	1	1	0
NUP205	23165	broad.mit.edu	37	7	135272739	135272739	+	Splice_Site	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:135272739A>G	ENST00000285968.6	+	10	1498	c.1472A>G	c.(1471-1473)cAg>cGg	p.Q491R	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	491					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTCAACGCCAGGTGAGTCTT	0.448000													9	38					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834545	101834545	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:101834545A>T	ENST00000506729.1	-	1	175	c.4T>A	c.(4-6)Ttc>Atc	p.F2I	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.F2I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.F2I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F2I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.F2I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACGCCTACGAACATGGCTCAC	0.716000													17	102					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947540	48947540	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr13:48947540G>C	ENST00000267163.4	+	12	1265		c.e12-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCCCCTCTAGGACTGTTATG	0.299000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			32	62					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186807	123186807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:123186807G>C	ENST00000328880.5	-	1	1083	c.1024C>G	c.(1024-1026)Cca>Gca	p.P342A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	342					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AACGCCTCTGGAGCGCCTCTG	0.557000													40	120					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													6	133					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470876	79470876	+	Silent	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:79470876G>T	ENST00000370742.3	-	2	114	c.51C>A	c.(49-51)tcC>tcA	p.S17S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	17					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTTGAGTATAGGAACAATTCA	0.343000													8	46					0.000157383	0.000162947	1	1	0
ANKRD36	375248	broad.mit.edu	37	2	97779656	97779656	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:97779656G>C	ENST00000420699.2	+	1	424	c.180G>C	c.(178-180)aaG>aaC	p.K60N	ANKRD36_ENST00000461153.2_Missense_Mutation_p.K60N	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	60										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACGCCAATAAGAGAGACAGGA	0.537000													7	16					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927231	98927231	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:98927231C>G	ENST00000266732.4	+	4	1434	c.1196C>G	c.(1195-1197)tCt>tGt	p.S399C	TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	308	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTTCTAACTCTATGCCCCCA	0.443000													10	43					0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3560053	3560053	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:3560053C>T	ENST00000046640.3	+	9	1238	c.645C>T	c.(643-645)ctC>ctT	p.L215L	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Silent_p.L107L|CTNS_ENST00000381870.3_Silent_p.L215L|CTNS_ENST00000414524.2_Silent_p.L68L	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	215					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CGGTTGTCCTCACGCTGATCA	0.602000													12	54					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806116	44806116	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:44806116C>T	ENST00000309315.4	+	18	2632	c.2509C>T	c.(2509-2511)Cat>Tat	p.H837Y	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.H811Y|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.H779Y|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.H805Y|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.H837Y|ZMIZ2_ENST00000463931.1_3'UTR	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	837	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCAGCTGCACCATTCAAACCC	0.637000													14	117					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282551	59282551	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:59282551C>T	ENST00000329328.3	+	1	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATCTCACCTTCATACGCCCAT	0.443000													61	188					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75884788	75884788	+	Silent	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:75884788A>G	ENST00000274364.6	+	6	813	c.516A>G	c.(514-516)gtA>gtG	p.V172V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	172					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGGGCAAAGTAGACTTCACAG	0.368000													12	44					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110522829	110522829	+	Silent	SNP	C	C	T	rs34592146	byFrequency	TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:110522829C>T	ENST00000368932.1	+	4	446	c.345C>T	c.(343-345)gcC>gcT	p.A115A	CDC40_ENST00000307731.1_Silent_p.A115A|CDC40_ENST00000368930.1_Silent_p.A115A			O60508	PRP17_HUMAN	cell division cycle 40	115					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CTGGATATGCCGAACCAGCTC	0.363000													14	49					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10097023	10097023	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:10097023C>T	ENST00000264828.3	-	30	2405	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	774	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCCCCTCCTCGCCAGCCTGC	0.617000													7	20					0	0	1	0	0
MIR890	100126303	broad.mit.edu	37	X	145075844	145075844	+	RNA	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:145075844G>A	ENST00000401256.1	-	0	25					NR_030589.1																						CTAAGCAACTGATGCCTTTCC	0.478000													34	67					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161162380	161162380	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:161162380C>G	ENST00000308192.9	+	17	2119	c.2056C>G	c.(2056-2058)Ctg>Gtg	p.L686V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	686	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCAGCTTGTCTGCCATCCCC	0.493000													4	60					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400403	85400403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:85400403C>T	ENST00000258888.5	+	6	3207	c.3040C>T	c.(3040-3042)Cag>Tag	p.Q1014*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1014					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGTGTGGAGCAGGTGGGAGG	0.637000													4	32					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39880039	39880039	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:39880039C>T	ENST00000373186.4	-	7	1087	c.950G>A	c.(949-951)cGc>cAc	p.R317H	MOCS1_ENST00000373175.4_Missense_Mutation_p.R288H|MOCS1_ENST00000373188.2_Missense_Mutation_p.R317H|MOCS1_ENST00000373195.3_Missense_Mutation_p.R230H|MOCS1_ENST00000340692.5_Missense_Mutation_p.R317H|MOCS1_ENST00000425303.2_Missense_Mutation_p.R317H|MOCS1_ENST00000432280.2_Missense_Mutation_p.R288H|MOCS1_ENST00000308559.7_Missense_Mutation_p.R317H	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.R317H(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GATTCGCAGGCGGTTGCAGGT	0.572000													6	103					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136304511	136304511	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr9:136304511C>A	ENST00000371929.3	+	15	2174	c.1730C>A	c.(1729-1731)aCc>aAc	p.T577N	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.T546N|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.T577N|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.T249N|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	577	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGACAGTTACCCCCAACCTG	0.498000													16	59					4.96729e-08	5.24894e-08	1	1	0
SRPK2	6733	broad.mit.edu	37	7	104909276	104909276	+	Silent	SNP	A	A	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:104909276A>C	ENST00000357311.3	-	1	186	c.15T>G	c.(13-15)tcT>tcG	p.S5S	SRPK2_ENST00000393651.3_Intron|SRPK2_ENST00000489828.1_Silent_p.S5S	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	5					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ACGACTTCTCAGAGTTAACTG	0.378000													7	47					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256074	77256074	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:77256074C>T	ENST00000248594.6	+	13	1350	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	PTPN12_ENST00000415482.2_Missense_Mutation_p.H241Y|PTPN12_ENST00000435495.2_Missense_Mutation_p.H230Y	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	360	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ACCGGAACCTCATCCAGTGCC	0.438000													6	52					0	0	1	0	0
HSBP1	3281	broad.mit.edu	37	16	83842312	83842312	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:83842312G>C	ENST00000433866.2	+	2	307	c.73G>C	c.(73-75)Gat>Cat	p.D25H	HSBP1_ENST00000570259.1_Missense_Mutation_p.D25H	NM_001537.3	NP_001528.1	O75506	HSBP1_HUMAN	heat shock factor binding protein 1	25					negative regulation of transcription from RNA polymerase II promoter	nucleus	transcription corepressor activity						all_cancers(2;0.00573)|all_epithelial(2;0.0309)		BRCA - Breast invasive adenocarcinoma(80;0.0404)		GCAGATGCAAGATAAATTTCA	0.493000													9	18					0	0	1	0	0
TTLL13P	440307	broad.mit.edu	37	15	90796578	90796578	+	Silent	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:90796578C>G	ENST00000561573.1	+	4	660	c.396C>G	c.(394-396)gtC>gtG	p.V132V	TTLL13_ENST00000438251.1_Silent_p.V132V|TTLL13_ENST00000339615.5_Silent_p.V132V																							TGGAACGAGTCATGGACATGA	0.587000													3	11					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28964084	28964084	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:28964084G>C	ENST00000377179.3	-	7	1207	c.695C>G	c.(694-696)tCa>tGa	p.S232*	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTATGTTTTGAGTTTGGATT	0.383000													14	136					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39316780	39316780	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:39316780G>A	ENST00000373313.2	-	1	1100	c.711C>T	c.(709-711)atC>atT	p.I237I	MAFB_ENST00000396967.1_Silent_p.I237I	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	237					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCTTCAGGCGGATCACCTCGT	0.627000			T	IGH@	MM								4	14					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25918738	25918738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:25918738C>T	ENST00000377850.3	-	6	1150	c.626G>A	c.(625-627)tGg>tAg	p.W209*	SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.W209*|SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.W209*			O00624	NPT3_HUMAN	solute carrier family 17, member 2	209					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GATAAAAGGCCAGCTCAAGGC	0.433000													5	23					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893190	34893190	+	Silent	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:34893190C>A	ENST00000592983.1	+	2	820	c.240C>A	c.(238-240)ctC>ctA	p.L80L	PIGW_ENST00000328396.2_Silent_p.L80L|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	80					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATTTATCCTCCTTGAGCTTC	0.438000													29	122					3.99451e-17	4.33267e-17	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113075131	113075131	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:113075131A>G	ENST00000316851.7	+	2	221	c.221A>G	c.(220-222)tAt>tGt	p.Y74C	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.Y83C|NCAM1_ENST00000533760.1_5'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	84	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTCACCATCTATAACGCCAAC	0.532000													6	29					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793046	4793046	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:4793046C>T	ENST00000269856.3	+	1	1319	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	394					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTATTACATCCGTTACAGGGG	0.617000													10	57					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7626358	7626358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:7626358C>T	ENST00000338316.4	+	4	738	c.649C>T	c.(649-651)Cag>Tag	p.Q217*		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	217					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTCGCTCTTCAGCAAACATA	0.448000													20	78					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217100	51217100	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:51217100G>A	ENST00000293441.1	-	5	765	c.747C>T	c.(745-747)acC>acT	p.T249T	SHANK1_ENST00000391814.1_Silent_p.T249T|SHANK1_ENST00000359082.3_Silent_p.T249T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	249					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TATGCAGTGCGGTCATGCCAT	0.662000													13	50					0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990556	51990556	+	Silent	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:51990556C>G	ENST00000322241.4	+	1	1227	c.888C>G	c.(886-888)ccC>ccG	p.P296P		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	296						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P296P(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCAGCGCCCCGTGCGCTTGG	0.731000													3	10					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932722	32932722	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:32932722C>T	ENST00000383763.5	+	4	2089	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGACAATCATCGCATCCAGAT	0.592000													8	40					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091209	26091209	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:26091209C>A	ENST00000357618.5	+	2	339	c.217C>A	c.(217-219)Cca>Aca	p.P73T	HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.P73T|HFE_ENST00000353147.5_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.P73T|HFE_ENST00000397022.3_Missense_Mutation_p.P50T|HFE_ENST00000470149.1_Missense_Mutation_p.P73T|HFE_ENST00000317896.7_Missense_Mutation_p.P73T|HFE_ENST00000309234.6_Missense_Mutation_p.P73T|HFE_ENST00000349999.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	73	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCCCGAACTCCATGGGTTTC	0.498000									Hemochromatosis				8	72					0.0381472	0.0383342	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338979	13338979	+	RNA	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr4:13338979C>T	ENST00000602906.1	+	0	767																				kidney(3)|lung(1)	4						ACCAGAAACACTGAAGACATC	0.408000													12	67					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356268	16356268	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:16356268G>A	ENST00000375692.1	+	14	1398	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	CLCNKA_ENST00000331433.4_Missense_Mutation_p.G424R|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G424R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G381R			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	424					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CATGCCTGCCGGGTACTTCAT	0.592000													20	150					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066224	73066224	+	RNA	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:73066224G>C	ENST00000429829.1	-	0	6364					NR_001564.2																						AGGGAAAGGTGAGACTGAGGT	0.473000													5	52					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152939599	152939599	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:152939599G>C	ENST00000447676.2	-	1	217	c.32C>G	c.(31-33)tCa>tGa	p.S11*	PNCK_ENST00000370142.1_Intron|PNCK_ENST00000393831.2_5'UTR			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	0						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAGGCTGACCCGGCCAC	0.672000													4	39					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558454	159558454	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:159558454G>C	ENST00000255040.2	+	2	725	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	210	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGAACTATGAAATCAGAGG	0.488000													6	63					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45789601	45789601	+	Silent	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr22:45789601A>G	ENST00000357450.4	-	9	1457	c.1458T>C	c.(1456-1458)aaT>aaC	p.N486N	SMC1B_ENST00000404354.3_Silent_p.N486N	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	486					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAATCCCAGCATTCTGCAATT	0.373000													24	61					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274513	29274513	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:29274513C>G	ENST00000377160.2	+	1	111	c.47C>G	c.(46-48)tCt>tGt	p.S16C		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATGGGGTTTTCTGATGAGCGT	0.433000													18	138					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124861430	124861430	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:124861430A>G	ENST00000529051.1	+	9	2241	c.1982A>G	c.(1981-1983)tAt>tGt	p.Y661C	CCDC15_ENST00000344762.5_Missense_Mutation_p.Y661C			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	661						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTGGCAGACTATCAGTGTTTG	0.363000													8	16					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								19	111					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263197	34263197	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:34263197G>A	ENST00000262622.4	+	4	1262	c.504G>A	c.(502-504)cgG>cgA	p.R168R	CHST8_ENST00000438847.3_Silent_p.R168R|CHST8_ENST00000434302.1_Silent_p.R168R	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAAGTACCGGGCGAGCAGCA	0.731000													3	13					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812912	131812912	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:131812912G>A	ENST00000409185.1	-	5	515	c.408C>T	c.(406-408)atC>atT	p.I136I	FAM168B_ENST00000389915.3_Silent_p.I136I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	136										endometrium(3)|lung(2)	5						TAGGAGGGGGGATGGGAGCAG	0.617000													15	82					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40556939	40556939	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:40556939G>A	ENST00000357037.5	-	2	1358	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	313					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TGTAGACCGCGGTCTTGGAGC	0.652000													15	32					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645382	38645382	+	RNA	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:38645382G>A	ENST00000494540.1	+	0	75					NR_003086.1																						AGTGCGCGAAGATGCGAAAGG	0.602000													7	15					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52903943	52903943	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:52903943C>T	ENST00000371544.3	-	25	4149	c.3887G>A	c.(3886-3888)cGt>cAt	p.R1296H	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1296H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1296					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCCACACACACGGCAACATCT	0.388000													24	137					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118435909	118435909	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:118435909C>T	ENST00000369209.3	-	11	1495		c.e11+1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A								ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTGATACTTACGGAGATGCTC	0.567000													4	54					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615579	8615579	+	Splice_Site	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:8615579C>G	ENST00000338257.8	-	9	1039		c.e9-1			NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF							unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCATAGCACTCTGTGGTACAA	0.607000													9	61					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959253	53959253	+	RNA	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:53959253G>C	ENST00000454407.1	+	0	1945							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAAGTGTAATGAGTGTGGCAA	0.403000													27	130					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32899191	32899191	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:32899191G>C	ENST00000342179.5	+	2	247	c.32G>C	c.(31-33)aGa>aCa	p.R11T	DPY19L3_ENST00000586987.1_Missense_Mutation_p.R11T|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R11T|DPY19L3_ENST00000587077.2_Missense_Mutation_p.R11T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	11						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AGAGAAATAAGAGCCACAGAA	0.393000													13	45					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30866981	30866981	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:30866981A>T	ENST00000324771.8	+	20	3198	c.2650A>T	c.(2650-2652)Atg>Ttg	p.M884L	DDR1_ENST00000376567.2_Missense_Mutation_p.M847L|DDR1_ENST00000376570.4_Missense_Mutation_p.M847L|DDR1_ENST00000454612.2_Missense_Mutation_p.M847L|DDR1_ENST00000376568.3_Missense_Mutation_p.M884L|DDR1_ENST00000376575.3_Missense_Mutation_p.M890L|DDR1_ENST00000376569.3_Missense_Mutation_p.M847L|DDR1_ENST00000452441.1_Missense_Mutation_p.M884L|DDR1_ENST00000508312.1_Missense_Mutation_p.M865L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Missense_Mutation_p.M890L|DDR1_ENST00000418800.2_Missense_Mutation_p.M847L|DDR1_ENST00000361741.4_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	884	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ATATGAGCTGATGCTTCGGTG	0.572000													5	132					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118887246	118887246	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:118887246A>T	ENST00000368491.3	-	3	1087	c.466T>A	c.(466-468)Tgg>Agg	p.W156R	CEP85L_ENST00000360290.3_Missense_Mutation_p.W54R|CEP85L_ENST00000419517.2_Missense_Mutation_p.W156R|CEP85L_ENST00000368488.5_Missense_Mutation_p.W159R|CEP85L_ENST00000392500.3_Missense_Mutation_p.W159R|CEP85L_ENST00000472713.1_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	156						centrosome											AAAGATGACCATTTCCGAAGT	0.507000													4	60					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060221	116060221	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:116060221C>G	ENST00000369271.3	-	14	2071	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E644Q|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E591Q	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	591					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCCAGGTTCTCTGGACACTTT	0.622000													5	62					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98478790	98478790	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:98478790C>T	ENST00000359863.4	+	2	226	c.17C>T	c.(16-18)aCa>aTa	p.T6I	TRRAP_ENST00000446306.3_Missense_Mutation_p.T6I|TRRAP_ENST00000355540.3_Missense_Mutation_p.T6I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	6					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGTTGCAACACAGGGGGCC	0.438000													5	50					0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151757583	151757583	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:151757583C>T	ENST00000367303.4	-	3	733	c.611G>A	c.(610-612)aGa>aAa	p.R204K	RMND1_ENST00000336451.3_5'UTR|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	204										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AGAAGTACCTCTAGGCAAGCT	0.393000													10	73					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10532971	10532971	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:10532971G>A	ENST00000583535.1	-	40	5826	c.5739C>T	c.(5737-5739)atC>atT	p.I1913I	MYH3_ENST00000226209.7_Silent_p.I1913I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1913					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAGATTCTGCGATATCCGCAC	0.567000													14	41					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781102	135781102	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr9:135781102G>C	ENST00000298552.3	-	15	2084	c.1863C>G	c.(1861-1863)atC>atG	p.I621M	TSC1_ENST00000440111.2_Missense_Mutation_p.I621M|TSC1_ENST00000545250.1_Missense_Mutation_p.I570M	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	621					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGTCTTCCTGATGACAAAAT	0.512000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	47					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787124	135787124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:135787124G>A	ENST00000367800.4	-	5	793	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	AHI1_ENST00000457866.2_Nonsense_Mutation_p.Q193*|AHI1_ENST00000327035.6_Nonsense_Mutation_p.Q193*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	193						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ACATGGCACTGATATGCTTGC	0.388000													12	66					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63935610	63935610	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:63935610G>C	ENST00000443617.2	-	58	11411	c.11324C>G	c.(11323-11325)tCt>tGt	p.S3775C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3775					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACCCTTAAAGACCAAATGTT	0.393000													4	13					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143112	21143112	+	RNA	SNP	T	T	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:21143112T>C	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAATAAGTGGTCTCAAGAGAA	0.443000													5	21					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891868	72891868	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:72891868C>G	ENST00000339594.4	-	7	2261	c.1923G>C	c.(1921-1923)ttG>ttC	p.L641F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L641F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	641	DDT.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TATCTGCACTCAAGGCTTCCA	0.458000													9	62					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11591418	11591418	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:11591418G>A	ENST00000359227.3	-	1	430	c.6C>T	c.(4-6)gtC>gtT	p.V2V	ELAVL3_ENST00000592218.1_5'UTR|CTC-398G3.6_ENST00000585656.1_Intron|ELAVL3_ENST00000438662.2_Silent_p.V2V	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	2					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TACCTACAGTGACCATTCTTG	0.716000													8	25					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995722	140995722	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:140995722G>C	ENST00000285879.4	+	4	2818	c.2532G>C	c.(2530-2532)aaG>aaC	p.K844N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	844							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTTCCAAGAGTTCCCCTG	0.532000										HNSCC(15;0.026)			20	273					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3461452	3461452	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:3461452G>A	ENST00000324266.5	+	7	1786	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E531K	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	531							binding										CGTGACTCAGGAGGGCAGACA	0.537000													3	36					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196083630	196083630	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:196083630G>C	ENST00000296328.4	-	11	1470	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V	UBXN7_ENST00000535858.1_Missense_Mutation_p.L318V|UBXN7_ENST00000428095.1_Missense_Mutation_p.L304V	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	466	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCATAGTCCAGATGAGATAAT	0.413000													10	83					0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78449893	78449893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:78449893C>T	ENST00000299518.2	+	3	177	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	IDH3A_ENST00000558554.1_Nonsense_Mutation_p.Q32*|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_5'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	32					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	TGTTCAGGTTCAGACAGTAAC	0.328000													10	53					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21551005	21551005	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr14:21551005C>T	ENST00000298694.4	+	16	3629	c.3502C>T	c.(3502-3504)Ctt>Ttt	p.L1168F	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.L1168F			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1168	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGTTCAGCCTTTATGCACA	0.522000													16	40					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41414860	41414860	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:41414860C>T	ENST00000318588.9	-	20	1880	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	CASK_ENST00000378158.1_Intron|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000442742.2_Missense_Mutation_p.G589E|CASK_ENST00000378166.4_Missense_Mutation_p.G612E|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Missense_Mutation_p.G583E|CASK_ENST00000378163.1_Missense_Mutation_p.G612E			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	612					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CACCTGTCGTCCTTTTGGTTG	0.358000													11	35					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49941026	49941026	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:49941026G>A	ENST00000296474.3	-	1	44	c.17C>T	c.(16-18)cCg>cTg	p.P6L	MST1R_ENST00000344206.4_Missense_Mutation_p.P6L|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	6					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGAGGCAGCGGCGGGAGGAG	0.726000													19	37					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101052959	101052959	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr9:101052959G>C	ENST00000259455.2	-	19	3192	c.2733C>G	c.(2731-2733)gaC>gaG	p.D911E		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	911					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CACAGCTGGCGTCCACGCCTC	0.657000													2	2					0	0	1	0	0
CGB7	94027	broad.mit.edu	37	19	49558185	49558185	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:49558185G>C	ENST00000356213.4	-	4	2967	c.90C>G	c.(88-90)atC>atG	p.I30M	CGB7_ENST00000596965.1_Missense_Mutation_p.I32M|CGB7_ENST00000377280.3_Missense_Mutation_p.I32M|CGB7_ENST00000597853.1_Missense_Mutation_p.I32M					chorionic gonadotropin, beta polypeptide 7											lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGTGGCATTGATGGGGCGGC	0.652000													3	46					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121011	38121011	+	Silent	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:38121011G>C	ENST00000395867.3	-	6	1822	c.1272C>G	c.(1270-1272)acC>acG	p.T424T	ZNF248_ENST00000357328.4_Silent_p.T424T|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCTGATGGTTGGTCAGGTGTG	0.433000													13	262					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016063	27016063	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:27016063C>T	ENST00000335756.4	+	4	539	c.339C>T	c.(337-339)acC>acT	p.T113T	CENPA_ENST00000233505.8_Silent_p.T87T|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	113	CATD.|H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCTCACCTTACATGCAG	0.562000													16	223					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16667286	16667286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:16667286G>T	ENST00000443444.2	+	15	4035	c.3895G>T	c.(3895-3897)Gag>Tag	p.E1299*	CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E1299*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E1299*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E1065*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E1299*			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1299																	TAGAACTAATGAGATGATAGC	0.373000													5	102					0.00198382	0.00201328	1	1	0
BPIFA3	128861	broad.mit.edu	37	20	31805345	31805345	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:31805345G>A	ENST00000375454.3	+	1	213	c.3G>A	c.(1-3)atG>atA	p.M1I	BPIFA3_ENST00000375452.3_Start_Codon_SNP_p.M1I|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	1						extracellular region	lipid binding										CAGACCCTATGATGTGTCCAC	0.597000													7	74					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013255	51013255	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr18:51013255G>A	ENST00000442544.2	+	26	4441	c.3825G>A	c.(3823-3825)ccG>ccA	p.P1275P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.P910P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1275					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCCCCACCCGCAGTTCACTC	0.537000													35	60					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138671272	138671272	+	Missense_Mutation	SNP	C	C	T	rs150395210		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr9:138671272C>T	ENST00000298480.5	+	24	2871	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	KCNT1_ENST00000491806.2_Missense_Mutation_p.R900C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R888C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R933C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R892C|KCNT1_ENST00000263604.3_Missense_Mutation_p.R914C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R914C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R912C			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	933						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATGCAGTTCCGCGCCAAGGA	0.632000													27	125					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148161	34148161	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:34148161G>A	ENST00000346193.3	-	1	2286	c.2235C>T	c.(2233-2235)agC>agT	p.S745S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	745										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CATAGCCCTTGCTTAGAATGA	0.413000													22	133					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040177	31040177	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:31040177C>T	ENST00000355537.3	+	4	3798	c.3651C>T	c.(3649-3651)ccC>ccT	p.P1217P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCCCAGCCCGTCCAGGGAC	0.627000													7	33					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172571243	172571243	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:172571243C>G	ENST00000367723.4	+	20	3635	c.3511C>G	c.(3511-3513)Ctt>Gtt	p.L1171V	SUCO_ENST00000608151.1_Missense_Mutation_p.L1172V|SUCO_ENST00000610051.1_Missense_Mutation_p.L649V|SUCO_ENST00000263688.3_Missense_Mutation_p.L1020V	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		ATCTTTGGTTCTTTGTGTTGT	0.333000													15	81					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798461	185798461	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:185798461G>T	ENST00000302277.6	+	3	980		c.e3+1			NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A							intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACTGTATGGTGAGTATCCA	0.393000													6	38					2.7689e-08	2.94106e-08	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117359646	117359646	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:117359646C>G	ENST00000160373.3	-	21	4647	c.4556G>C	c.(4555-4557)aGa>aCa	p.R1519T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1519										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGAGAGAGTCTCTGATCCAA	0.413000													15	76					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099994	110099994	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr8:110099994G>A	ENST00000518632.1	+	2	604	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TRHR_ENST00000311762.2_Missense_Mutation_p.D85N			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	85						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAACATAACAGACAGTATCTA	0.502000													34	66					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301359	11301359	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:11301359G>C	ENST00000397056.1	+	3	827	c.636G>C	c.(634-636)aaG>aaC	p.K212N	HRH1_ENST00000431010.2_Missense_Mutation_p.K212N|HRH1_ENST00000438284.2_Missense_Mutation_p.K212N	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512000													20	120					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113694378	113694378	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:113694378C>A	ENST00000003302.4	-	12	1300	c.1232G>T	c.(1231-1233)tGt>tTt	p.C411F	USP28_ENST00000260188.5_Missense_Mutation_p.C411F|USP28_ENST00000537706.1_Missense_Mutation_p.C411F|USP28_ENST00000544967.1_Missense_Mutation_p.C119F|USP28_ENST00000545540.1_Missense_Mutation_p.C286F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	411					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTTCGAATACACTCTCTCTT	0.303000													6	45					1.06961e-07	1.12447e-07	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736323	12736323	+	Silent	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:12736323C>G	ENST00000380682.1	+	16	3884	c.3378C>G	c.(3376-3378)gcC>gcG	p.A1126A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1126					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAAGGGAGGCCGAAGGGAAGG	0.527000													27	230					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	394886	394886	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:394886G>T	ENST00000380956.4	+	3	408	c.282G>T	c.(280-282)aaG>aaT	p.K94N	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	94					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.K94_T95>NP(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCACCTGGAAGACGCGCCTGC	0.522000			T	IGH@	MM								19	133					3.99206e-14	4.30722e-14	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34037226	34037226	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:34037226G>A	ENST00000373381.4	-	51	8039	c.7863C>T	c.(7861-7863)atC>atT	p.I2621I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2623	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGGTCACAGATGAGCATCA	0.552000													7	62					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226328	50226328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:50226328G>A	ENST00000284509.6	-	15	1480	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q447*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCAAAGAACTGAAATTCTCTA	0.388000													19	68					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99661410	99661410	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:99661410G>C	ENST00000292450.4	+	4	756		c.e4-1		ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000456748.2_Splice_Site|ZSCAN21_ENST00000543588.1_Splice_Site	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21						positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TATTGTTTCAGATTGCAGATT	0.423000													12	49					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123089118	123089118	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:123089118C>G	ENST00000333479.7	+	49	5286	c.5109C>G	c.(5107-5109)ttC>ttG	p.F1703L	KNTC1_ENST00000537348.1_Missense_Mutation_p.F128L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1703					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAGGTTCCTTCAAGATATCTG	0.313000													5	34					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722402	16722402	+	RNA	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:16722402C>T	ENST00000417510.1	-	0	1328																											CACTGCCAATCATCTCCTGGA	0.577000													10	62					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711796	31711796	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:31711796C>T	ENST00000493662.2	+	6	587	c.531C>T	c.(529-531)ctC>ctT	p.L177L	MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000534153.4_Silent_p.L177L|MSH5_ENST00000375750.3_Silent_p.L177L|MSH5_ENST00000375740.3_Silent_p.L177L|MSH5_ENST00000375742.3_Silent_p.L177L|MSH5_ENST00000375703.3_Silent_p.L177L|MSH5_ENST00000375755.3_Silent_p.L177L																							TTGACTGCCTCCTCACAGTGA	0.522000													22	173					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042848	73042848	+	RNA	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:73042848G>A	ENST00000604411.1	+	0	30809				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACTTTATTCAGTTTTAATAAA	0.318000													14	96					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808623	241808623	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:241808623T>A	ENST00000307503.3	+	2	589	c.202T>A	c.(202-204)Ttc>Atc	p.F68I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	68					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCAGTACGTGTTCCAGACCAG	0.612000													10	38					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92178019	92178019	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:92178019C>T	ENST00000212355.4	-	13	2412	c.1947G>A	c.(1945-1947)agG>agA	p.R649R	TGFBR3_ENST00000370399.2_Silent_p.R648R|TGFBR3_ENST00000525962.1_Silent_p.R649R	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	649	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AATGAGACATCCTATCAGGGT	0.398000													10	74					0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551420	150551420	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:150551420G>C	ENST00000369026.2	-	1	646	c.587C>G	c.(586-588)aCa>aGa	p.T196R	MCL1_ENST00000307940.3_Missense_Mutation_p.T196R	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	196					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTGGCTTTGTGTCCTTGGC	0.647000													26	48					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114286205	114286205	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr4:114286205C>T	ENST00000357077.4	+	41	10952	c.10899C>T	c.(10897-10899)ctC>ctT	p.L3633L	ANK2_ENST00000510275.2_Silent_p.L200L|ANK2_ENST00000264366.6_Silent_p.L3600L|ANK2_ENST00000394537.3_Silent_p.L1548L|ANK2_ENST00000506722.1_Silent_p.L1539L|ANK2_ENST00000509550.1_Silent_p.L724L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3600					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACCAACCTCGTTGAATGTC	0.388000													10	60					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55355706	55355706	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr18:55355706G>A	ENST00000536015.1	-	13	1373	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.F418F	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	418					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCCAGTTGATGAAGTGACTCT	0.453000													7	95					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42682998	42682998	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:42682998G>C	ENST00000358131.5	+	5	946	c.738G>C	c.(736-738)aaG>aaC	p.K246N	TOX2_ENST00000341197.4_Missense_Mutation_p.K237N|TOX2_ENST00000423191.2_Missense_Mutation_p.K195N|TOX2_ENST00000372999.1_Missense_Mutation_p.K195N|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	246	Poly-Lys.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCGAAGAAGAAGAAAAAGA	0.537000													3	30					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324614	3324614	+	Silent	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:3324614C>G	ENST00000291231.1	+	1	753	c.753C>G	c.(751-753)ggC>ggG	p.G251G		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCACATGTGGCTCCCACCTCA	0.547000													18	86					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56215899	56215899	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:56215899C>G	ENST00000357606.3	-	8	2260	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H	DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q657H|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q657H|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.D287H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	657					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CATTGGGCATCTGCCCTGGGG	0.542000													7	31					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732667	152732667	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:152732667C>G	ENST00000368773.1	+	2	661	c.603C>G	c.(601-603)tgC>tgG	p.C201W	KPRP_ENST00000606109.1_Missense_Mutation_p.C201W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	201	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCTACCTGCAACAACTACA	0.567000													18	171					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33534500	33534500	+	Splice_Site	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:33534500G>C	ENST00000404816.2	+	23	3834		c.e23-1		LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000498013.1_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTGGTTTTTAGATATCAATGA	0.328000													14	76					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242277199	242277199	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:242277199G>A	ENST00000391973.2	+	7	1116	c.588G>A	c.(586-588)aaG>aaA	p.K196K	SEPT2_ENST00000402092.2_Silent_p.K196K|SEPT2_ENST00000360051.3_Silent_p.K196K|SEPT2_ENST00000407971.1_Silent_p.K156K|SEPT2_ENST00000391971.2_Silent_p.K196K|SEPT2_ENST00000401990.1_Silent_p.K206K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	196					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		AGCGGCTGAAGAAAAGGGTGA	0.547000													5	28					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15355173	15355173	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:15355173A>C	ENST00000263377.2	-	13	2671	c.2450T>G	c.(2449-2451)tTt>tGt	p.F817C		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	817					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GATGGGGTCAAAGACGCTGCC	0.692000			T	C15orf55	lethal midline carcinoma of young people								3	20					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469639	52469639	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:52469639G>A	ENST00000231721.2	-	16	2328	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	777					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCACCTCCCGGGGCGTCCGA	0.692000													47	112					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599220	179599220	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:179599220C>G	ENST00000589042.1	-	52	15555	c.15331G>C	c.(15331-15333)Gac>Cac	p.D5111H	TTN_ENST00000591111.1_Missense_Mutation_p.D4794H|TTN_ENST00000342992.6_Missense_Mutation_p.D3867H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4794	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTCTTGTCTTTGAACCAG	0.388000													23	48					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27195962	27195962	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:27195962G>A	ENST00000242159.3	-	1	336	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	68					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCCGTAGCCGGACGCAAAGGG	0.667000													20	80					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9043486	9043486	+	Silent	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:9043486G>C	ENST00000457346.2	-	22	2945	c.2871C>G	c.(2869-2871)ctC>ctG	p.L957L	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.L736L|SCUBE2_ENST00000309263.3_Silent_p.L928L|SCUBE2_ENST00000520467.1_Silent_p.L900L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	928						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGTCTTCAATGAGTTCCTGGT	0.418000													3	31					0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600549	116600549	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:116600549C>G	ENST00000368608.3	-	1	517	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	149					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GCCTCAGCCTCCGCCCCCGCC	0.657000													11	74					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6182376	6182376	+	Splice_Site	SNP	T	T	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:6182376T>C	ENST00000264870.3	-	11	1571		c.e11-2			NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCTGTTGACCTGGAAACAGGA	0.453000													3	30					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54275189	54275189	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:54275189C>T	ENST00000381405.4	-	3	671	c.526G>A	c.(526-528)Gta>Ata	p.V176I	ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Missense_Mutation_p.V126I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	176					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCCTCATTACGGGAGACCCG	0.438000													24	84					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542401	40542401	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:40542401G>A	ENST00000434248.1	-	5	430	c.365C>T	c.(364-366)tCa>tTa	p.S122L	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTATATTCTGAGTCATTTCT	0.343000													15	21					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39317352	39317352	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:39317352T>C	ENST00000373313.2	-	1	528	c.139A>G	c.(139-141)Aca>Gca	p.T47A	MAFB_ENST00000396967.1_Missense_Mutation_p.T47A	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	47					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TGCAGGCGTGTGCAGGGCCTG	0.667000			T	IGH@	MM								19	48					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117060282	117060282	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:117060282C>T	ENST00000284629.2	-	4	437	c.375G>A	c.(373-375)gaG>gaA	p.E125E		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	125					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AGATCTGTTCCTCTGAGCCAT	0.358000													17	48					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89474722	89474722	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:89474722G>C	ENST00000370481.4	-	10	1787	c.1567C>G	c.(1567-1569)Caa>Gaa	p.Q523E		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	523						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ACATGTTCTTGATAACTCTTC	0.428000													11	77					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57322900	57322900	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:57322900T>C	ENST00000284116.4	+	3	448	c.311T>C	c.(310-312)cTc>cCc	p.L104P	GDPD1_ENST00000581276.1_Missense_Mutation_p.L104P|GDPD1_ENST00000581140.1_Missense_Mutation_p.L104P	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	104	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATCTCTGATCTCAAATACTGT	0.328000													6	57					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102432314	102432314	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:102432314C>A	ENST00000399004.2	-	7	1319	c.1225G>T	c.(1225-1227)Ggg>Tgg	p.G409W	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	409					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AGTCTAACCCCAGTGTTGTCT	0.403000													53	132					2.17126e-26	2.38026e-26	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70387301	70387301	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:70387301G>C	ENST00000374051.3	+	6	1616	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.E452Q|NLGN3_ENST00000536169.1_Missense_Mutation_p.E412Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	452					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CACCCTGCGAGAGACCATCAA	0.527000													6	56					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8052875	8052875	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:8052875C>T	ENST00000317276.4	-	6	995	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PER1_ENST00000354903.5_Missense_Mutation_p.R237H|PER1_ENST00000581082.1_Missense_Mutation_p.R233H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	253	PAS 1.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCAGAGAAGCGGGTACCCCG	0.627000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					12	43					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110770986	110770986	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:110770986G>A	ENST00000395494.2	+	9	1667	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	ATP2A2_ENST00000308664.6_Splice_Site_p.V395V|ATP2A2_ENST00000539276.2_Splice_Site_p.V395V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	395					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTGGGCAGGCATAAAGATG	0.428000													4	104					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28824570	28824570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:28824570C>A	ENST00000375664.4	+	3	632	c.23C>A	c.(22-24)tCa>tAa	p.S8*	WAC_ENST00000354911.4_Nonsense_Mutation_p.S53*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S8*|WAC_ENST00000428935.1_Nonsense_Mutation_p.S8*|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000347934.4_Nonsense_Mutation_p.S53*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGAGATCCTTCACCACCAAAT	0.458000													51	69					4.44712e-29	4.9014e-29	1	1	0
CMSS1	84319	broad.mit.edu	37	3	99895184	99895184	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:99895184G>C	ENST00000421999.2	+	9	827	c.681G>C	c.(679-681)ttG>ttC	p.L227F	CMSS1_ENST00000489081.1_Missense_Mutation_p.L209F	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		GCCTTAATTTGAGCCCCTTAA	0.408000													6	30					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75650904	75650904	+	Missense_Mutation	SNP	G	G	A	rs148467582		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:75650904G>A	ENST00000565683.1	-	20	2364	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	MAN2C1_ENST00000569482.1_Missense_Mutation_p.R768W|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R768W|MAN2C1_ENST00000563622.1_Missense_Mutation_p.R669W	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	768					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCGCTGCCCCGCAGGCCGCCC	0.642000													9	47					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46874223	46874223	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:46874223G>C	ENST00000243167.8	+	8	1128	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	348					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCGTGCTGGAGACCAAACAGA	0.617000													35	275					0	0	1	0	0
RAB40A	142684	broad.mit.edu	37	X	102754907	102754907	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:102754907A>G	ENST00000372633.1	-	1	2896	c.778T>C	c.(778-780)Tgc>Cgc	p.C260R	RAB40A_ENST00000304236.1_Missense_Mutation_p.C260R|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	260					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TGGGGTGGGCAGACGATCTCC	0.532000													5	101					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563203	125563203	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr9:125563203G>A	ENST00000277309.2	+	1	834	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATCCCGACGCGAGGCAGAGTG	0.607000													11	92					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066805	18066805	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:18066805C>T	ENST00000506618.2	-	1	681	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	201					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CAGTCCACTTCATTGGCCTTC	0.473000													22	127					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													5	19					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55844392	55844392	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:55844392G>A	ENST00000272313.5	-	1	357	c.30C>T	c.(28-30)gtC>gtT	p.V10V	SMEK2_ENST00000345102.5_Silent_p.V10V|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000407823.3_Silent_p.V10V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	10	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAGGGTATAGACCTTCACTC	0.637000													11	27					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350126	51350126	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:51350126C>G	ENST00000327536.5	-	3	930	c.831G>C	c.(829-831)aaG>aaC	p.K277N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	277										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CACAAATCCTCTTGAGGTTGG	0.478000													6	65					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40820285	40820285	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:40820285C>T	ENST00000293349.6	-	13	2663	c.2233G>A	c.(2233-2235)Gcc>Acc	p.A745T	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A571T|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.A748T			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	748	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGGGGTTGGCCAAGTAGGCA	0.612000													10	20					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761833	74761833	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:74761833G>C	ENST00000264094.3	-	10	1719	c.1648C>G	c.(1648-1650)Cat>Gat	p.H550D	LOXL3_ENST00000393937.2_Missense_Mutation_p.H405D|LOXL3_ENST00000409986.1_Missense_Mutation_p.H405D|LOXL3_ENST00000409549.1_Missense_Mutation_p.H494D|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	550	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TACAACATATGCAGGGGCCGG	0.587000													14	46					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38293862	38293862	+	Silent	SNP	T	T	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:38293862T>C	ENST00000311806.3	+	17	1860	c.1488T>C	c.(1486-1488)aaT>aaC	p.N496N		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	496					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCAGTCAAATCGATCTGTCA	0.398000													5	114					0	0	1	0	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185434259	185434259	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:185434259C>T	ENST00000296270.1	+	2	228	c.92C>T	c.(91-93)tCt>tTt	p.S31F	IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAGGTCTCTTCTTATGTCTCT	0.433000													26	89					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854881	79854881	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:79854881C>A	ENST00000338682.3	-	5	1630	c.958G>T	c.(958-960)Gat>Tat	p.D320Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	320						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTATTTCATCATATGACATC	0.408000													5	57					0.184627	0.184627	1	1	0
IGF1R	3480	broad.mit.edu	37	15	99442715	99442715	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:99442715C>A	ENST00000268035.6	+	5	1723	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	IGF1R_ENST00000558762.1_Missense_Mutation_p.A371D	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	371					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GATAACATTGCTTCAGAGCTG	0.458000													20	42					1.50039e-11	1.61037e-11	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104898002	104898002	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr8:104898002C>G	ENST00000507740.1	+	2	835	c.599C>G	c.(598-600)tCa>tGa	p.S200*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.S200*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.S392*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.S170*|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	423					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S200L(2)|p.S392L(1)|p.S170L(1)|p.S428L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATCGACCATCAAGGCAAAGA	0.453000										HNSCC(12;0.0054)			4	33					0	0	1	0	0
COA6	388753	broad.mit.edu	37	1	234509413	234509413	+	Silent	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:234509413G>T	ENST00000366615.4	+	1	212	c.201G>T	c.(199-201)ggG>ggT	p.G67G		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		CCGGACGTGGGCGGGCAGAGA	0.692000													44	92					1.35964e-18	1.48258e-18	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													6	89					0	0	1	0	0
ZNF674	641339	broad.mit.edu	37	X	46359668	46359668	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chrX:46359668C>G	ENST00000523374.1	-	6	1566	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	ZNF674_ENST00000414387.2_Missense_Mutation_p.E446D	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GGGTTGACTTCTCCCCAAAGG	0.428000													8	98					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560637	44560637	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr18:44560637C>T	ENST00000332567.4	-	1	1351	c.999G>A	c.(997-999)tcG>tcA	p.S333S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	333					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTCCTCGGGCGACAGGCCGT	0.592000													12	78					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294288	31294288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:31294288G>A	ENST00000542188.1	-	27	4979	c.4666C>T	c.(4666-4668)Cga>Tga	p.R1556*	TRPM1_ENST00000256552.6_Nonsense_Mutation_p.R1539*|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.R1517*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1517					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGAGGGATTCGAGGAATTGCT	0.453000													66	205					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													7	83					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969814	81969814	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:81969814G>A	ENST00000359376.3	+	27	3097	c.2883G>A	c.(2881-2883)acG>acA	p.T961T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	961	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTGTGGAGACGAAGGCTGACA	0.478000													12	35					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134649690	134649690	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:134649690G>A	ENST00000368586.5	-	46	6669	c.6569C>T	c.(6568-6570)cCc>cTc	p.P2190L	TTC40_ENST00000263170.5_Missense_Mutation_p.P351L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	351										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AATGAACTTGGGTTTCTCGTA	0.652000													7	20					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366916	49366916	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr20:49366916C>G	ENST00000371610.2	+	3	1253	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	337					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TTTATTCCCTCTAATGAAGTG	0.418000													22	69					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46067943	46067943	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:46067943G>A	ENST00000350030.3	+	3	211	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NASP_ENST00000402363.3_Missense_Mutation_p.E44K|NASP_ENST00000372052.4_Missense_Mutation_p.E42K|NASP_ENST00000351223.3_Missense_Mutation_p.E42K|NASP_ENST00000537798.1_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	42					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TGTGGATAGTGAAGCTAAGAA	0.373000													12	48					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548961	158548961	+	Silent	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:158548961C>T	ENST00000368150.1	-	1	728	c.729G>A	c.(727-729)agG>agA	p.R243R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGAAGGGATCCTGAGGACAG	0.453000													11	81					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053699	135053699	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:135053699G>A	ENST00000325980.9	+	3	1177	c.666G>A	c.(664-666)ggG>ggA	p.G222G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTGCTGCGGGCAGCCTCTGG	0.716000													3	14					0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12262095	12262095	+	Silent	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:12262095G>T	ENST00000376259.3	+	9	1061	c.972G>T	c.(970-972)ccG>ccT	p.P324P	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	324					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCACAGCGCCGAGCTCCAGCA	0.687000													3	13					1.23904e-05	1.28936e-05	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98592261	98592261	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr7:98592261G>C	ENST00000359863.4	+	66	10266	c.10057G>C	c.(10057-10059)Gag>Cag	p.E3353Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3342Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3324Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3353					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGTGGCGTTTGAGAAAAGTGG	0.527000													24	203					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:56782202C>T	ENST00000569842.1	+	2	139	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517000													16	52					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44105089	44105089	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:44105089G>T	ENST00000263776.8	+	14	1804	c.1370G>T	c.(1369-1371)cGc>cTc	p.R457L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	457							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R457L(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGTTGGTTTCGCTTTGTCTTC	0.562000													9	29					7.48243e-07	7.82601e-07	1	1	0
CEP57	9702	broad.mit.edu	37	11	95555688	95555688	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:95555688C>T	ENST00000325542.5	+	8	1071	c.833C>T	c.(832-834)gCa>gTa	p.A278V	CEP57_ENST00000325486.5_Intron|CEP57_ENST00000537677.1_Missense_Mutation_p.A251V|CEP57_ENST00000541150.1_Missense_Mutation_p.A269V|CEP57_ENST00000538658.1_3'UTR	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	278	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTTGGTGCACAACCACAT	0.333000									Mosaic Variegated Aneuploidy Syndrome				7	58					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862684	7862684	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:7862684A>T	ENST00000283147.6	+	4	1316	c.1157A>T	c.(1156-1158)aAt>aTt	p.N386I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	386					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAGAGTCGTAATCGCTCTACC	0.592000													15	55					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49690271	49690271	+	Silent	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr12:49690271G>A	ENST00000257860.4	+	3	2162	c.663G>A	c.(661-663)ctG>ctA	p.L221L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	221	Coil 1B.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TTGAGTCTCTGATGGATGAGA	0.577000													8	29					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987789	50987789	+	Silent	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr22:50987789C>G	ENST00000395676.2	+	1	1328	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	398										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCCCAGCTCAAGCTGGTGG	0.647000													9	56					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	78					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89761718	89761718	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:89761718G>C	ENST00000331006.8	+	11	2550	c.809G>C	c.(808-810)tGc>tCc	p.C270S	CDK10_ENST00000353379.7_Missense_Mutation_p.C317S|CDK10_ENST00000505473.1_Missense_Mutation_p.C246S			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	317	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCCGGGGACTGCCTGGAGAGC	0.622000													19	91					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645654	215645654	+	Missense_Mutation	SNP	G	G	A	rs148760338		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:215645654G>A	ENST00000260947.4	-	4	1078	c.944C>T	c.(943-945)cCa>cTa	p.P315L	BARD1_ENST00000449967.2_Missense_Mutation_p.P171L|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	315					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTTCTAATGGCAAAGATTT	0.398000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	89					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940321	22940321	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr19:22940321G>A	ENST00000397104.3	-	5	2116	c.2117C>T	c.(2116-2118)gCt>gTt	p.A706V	ZNF99_ENST00000596209.1_Missense_Mutation_p.A797V					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTGTTAAAAGCTTTGCCACA	0.353000													7	36					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19459337	19459337	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:19459337C>G	ENST00000270570.4	+	10	969	c.883C>G	c.(883-885)Cag>Gag	p.Q295E	SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q272E|SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q295E|SLC47A1_ENST00000571335.1_Missense_Mutation_p.Q100E|SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q295E	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	295						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCTGGGCGCTCAGTCCATCGT	0.582000													8	43					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123172	81123172	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr4:81123172G>C	ENST00000339711.4	+	10	1787	c.556G>C	c.(556-558)Gat>Cat	p.D186H	PRDM8_ENST00000415738.2_Missense_Mutation_p.D186H|PRDM8_ENST00000504452.1_Missense_Mutation_p.D186H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCACAGCGCTGATATAAGTCC	0.622000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	94					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63681768	63681768	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:63681768C>G	ENST00000301459.4	-	7	1027	c.640G>C	c.(640-642)Gag>Cag	p.E214Q		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTCTCCCTCACTCACGCCT	0.637000													5	32					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64527244	64527244	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:64527244C>A	ENST00000164139.3	-	1	525	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	PYGM_ENST00000377432.3_Missense_Mutation_p.D43Y	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	43					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACATTGCGGTCCTTTACGAGT	0.572000													60	183					6.75472e-32	7.48496e-32	1	1	0
RAD9A	5883	broad.mit.edu	37	11	67163640	67163640	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr11:67163640C>G	ENST00000307980.2	+	8	821	c.728C>G	c.(727-729)cCa>cGa	p.P243R	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	243					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTTGATGCTCCAGGCAGGTAG	0.612000								Other conserved DNA damage response genes					9	68					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468263	35468263	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr21:35468263G>A	ENST00000608209.1	+	2	1278	c.766G>A	c.(766-768)Gat>Aat	p.D256N	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.D256N	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GAATCCAACAGATGAAGATGT	0.473000													11	69					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163325138	163325138	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr1:163325138A>C	ENST00000271452.3	+	14	1553	c.1274A>C	c.(1273-1275)aAc>aCc	p.N425T	NUF2_ENST00000524800.1_Missense_Mutation_p.N378T|NUF2_ENST00000367900.3_Missense_Mutation_p.N425T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	425	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATATTTCTAAACTTGAAAACT	0.338000													16	47					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582447	24582447	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:24582447A>G	ENST00000319715.4	+	18	4492	c.4060A>G	c.(4060-4062)Aca>Gca	p.T1354A	RBBP6_ENST00000381039.3_Missense_Mutation_p.T514A|RBBP6_ENST00000348022.2_Missense_Mutation_p.T1320A	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1354					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAATGTTAGTACAAAGCCATC	0.358000													7	47					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884153	215884154	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:215884153_215884154insC	ENST00000272895.7	-	13	1782_1783	c.1563_1564insG	c.(1561-1566)ctgcaafs	p.Q522fs	ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.Q204fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	522					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAATTCATTTGCAGTGCCTGTT	0.361													32	54	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	RNA	DEL	T	T	-	rs71401155		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													2	4	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195516137	195516137	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr3:195516137delG	ENST00000463781.3	-	2	2773	c.2314delC	c.(2314-2316)catfs	p.H772fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Del_p.H772fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	777					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGTGGGTATGGGTCATGGCT	0.607													13	73	---	---	---	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													7	56	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG	rs144810212	by1000genomes	TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1																						TTGGGGAAAGACTTTATCCAGG	0.436													2	4	---	---	---	---					
SPAG1	6674	broad.mit.edu	37	8	101245758	101245759	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr8:101245758_101245759insA	ENST00000388798.2	+	16	2299_2300	c.2108_2109insA	c.(2107-2112)ggactcfs	p.L704fs	SPAG1_ENST00000251809.3_Frame_Shift_Ins_p.L704fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	704					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCTCATAAAGGACTCAAGGTGA	0.436													6	7	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20620697	20620721	+	Frame_Shift_Del	DEL	TTCTCCACAAAGTGCTGTATGTTAC	TTCTCCACAAAGTGCTGTATGTTAC	-			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr9:20620697_20620721delTTCTCCACAAAGTGCTGTATGTTAC	ENST00000380338.4	-	2	411_435	c.125_149delGTAACATACAGCACTTTGTGGAGAA	c.(124-150)agtaacatacagcactttgtggagaaafs	p.SNIQHFVEK42fs	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.SNIQHFVEK39fs|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	42	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		GAAGACGACTTTCTCCACAAAGTGCTGTATGTTACTGTGCTCCGG	0.516			T	MLL	ALL								10	148	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24762399	24762399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr10:24762399delC	ENST00000376451.2	+	2	503	c.243delC	c.(241-243)agcfs	p.S81fs	KIAA1217_ENST00000458595.1_Frame_Shift_Del_p.S363fs|KIAA1217_ENST00000396445.1_Frame_Shift_Del_p.S81fs|KIAA1217_ENST00000376452.3_Frame_Shift_Del_p.S363fs|KIAA1217_ENST00000430453.2_Frame_Shift_Del_p.S284fs|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.S363fs|KIAA1217_ENST00000376462.1_Frame_Shift_Del_p.S283fs|KIAA1217_ENST00000396446.1_Frame_Shift_Del_p.S81fs|KIAA1217_ENST00000307544.6_Frame_Shift_Del_p.S81fs			Q5T5P2	SKT_HUMAN	KIAA1217	363					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCTCCAAGCCCAAGCGCCA	0.502													60	156	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													8	118	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A6TF-01A-52D-A32B-08	TCGA-FD-A6TF-10A-21D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb87d097-c9c6-46bf-8813-3b20ee5f2a26	4d9b1b06-1726-4934-8904-196cc85e73b4	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tgtfs	p.C229fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGTGGTACAGTCAGAGCC	0.530		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	29	---	---	---	---