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
NXF3	56000	broad.mit.edu	37	X	102337158	102337158	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:102337158G>A	ENST00000425463.2	-	8	951	c.648C>T	c.(646-648)acC>acT	p.T216T	NXF3_ENST00000395065.3_Intron|NXF3_ENST00000425644.1_Intron			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	308						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGGGTCCCAGGTGGTGACAG	0.582000													33	9					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45147933	45147933	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:45147933G>A	ENST00000458659.2	-	1	2768	c.2278C>T	c.(2278-2280)Cca>Tca	p.P760S	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	760	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGCGAAGATGGAGGAGCACCC	0.483000													10	23					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958833	16958833	+	RNA	SNP	T	T	A	rs28687450	by1000genomes	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:16958833T>A	ENST00000412962.1	-	0	74																											TCTGCTTCTGTAGACGCTTCA	0.587000													9	59					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38891017	38891017	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:38891017C>G	ENST00000396821.3	-	7	1014	c.915G>C	c.(913-915)ctG>ctC	p.L305L	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.L226L	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	226					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGAAATCTATCAGACGTCCAG	0.468000													15	21					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131036204	131036204	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:131036204C>T	ENST00000421699.2	-	2	144	c.132G>A	c.(130-132)gcG>gcA	p.A44A	GOLGA2_ENST00000609374.1_Silent_p.A32A|GOLGA2_ENST00000490628.1_Silent_p.A44A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	44						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTTCTTTTTCGCTCCTGTAG	0.453000													28	154					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314619	46314619	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:46314619G>C	ENST00000510861.1	-	5	543	c.370C>G	c.(370-372)Cca>Gca	p.P124A	GABRA2_ENST00000507069.1_Missense_Mutation_p.P124A|GABRA2_ENST00000514090.1_Missense_Mutation_p.P124A|GABRA2_ENST00000381620.4_Missense_Mutation_p.P124A|GABRA2_ENST00000515082.1_Missense_Mutation_p.P124A|GABRA2_ENST00000356504.1_Missense_Mutation_p.P124A|GABRA2_ENST00000540012.1_Missense_Mutation_p.P69A			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	124					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGGTATCTGGAGTCCAGATT	0.343000													17	51					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092352	159092352	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:159092352G>A	ENST00000296530.8	-	2	797	c.176C>T	c.(175-177)tCt>tTt	p.S59F	FAM198B_ENST00000585682.1_Missense_Mutation_p.S59F|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.S59F|FAM198B_ENST00000592057.1_Missense_Mutation_p.S59F	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	59						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ATGCTGGAGAGAGGCCCTCCC	0.657000													11	30					0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	65008864	65008864	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:65008864A>G	ENST00000381007.4	-	3	363	c.128T>C	c.(127-129)tTt>tCt	p.F43S		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	43							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GCTGATCTTAAAAACTGTCTC	0.303000													18	24					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5134006	5134006	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:5134006C>T	ENST00000159111.4	+	14	2237	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	KDM4B_ENST00000536461.1_Silent_p.F707F	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	673					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAGGAAGTTCAACGCAGCGG	0.662000													13	70					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119252744	119252744	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:119252744C>G	ENST00000316316.6	-	2	431	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	MCM9_ENST00000316068.3_Missense_Mutation_p.E49Q	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	49					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ATGTTGGTCTCAAACAGAGTC	0.398000													16	48					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32339806	32339806	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:32339806C>T	ENST00000315285.3	+	5	907	c.782C>T	c.(781-783)tCa>tTa	p.S261L	SPAST_ENST00000345662.1_Missense_Mutation_p.S229L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	261	Required for interaction with RTN1.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCAGGCCTTTCAGGCCACCAT	0.453000													17	64					0	0	1	0	0
INSL3	3640	broad.mit.edu	37	19	17927779	17927779	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:17927779G>C	ENST00000317306.7	-	2	296	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	INSL3_ENST00000379695.5_Silent_p.P125P	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	94					cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity			breast(1)|lung(1)	2						GTCTGGGGCAGGGGCTGCAGG	0.627000													9	32					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547981	17547981	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:17547981C>T	ENST00000005226.7	-	8	586	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	USH1C_ENST00000527020.1_Missense_Mutation_p.R196Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R165Q|USH1C_ENST00000318024.4_Missense_Mutation_p.R196Q	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	196					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGGCTGCCTCGCACGCCCTG	0.597000													4	7					0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20917134	20917134	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:20917134C>G	ENST00000206542.4	-	5	967	c.546G>C	c.(544-546)caG>caC	p.Q182H	OSGEP_ENST00000555656.1_5'UTR|OSGEP_ENST00000554249.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	182					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GCTTTGCCATCTGTTCAATGT	0.448000													34	75					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121500618	121500618	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:121500618C>T	ENST00000310864.6	-	13	1596	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.R328Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	461					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GTCATCCACTCGTTTCTTCAG	0.403000													4	109					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102349808	102349808	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:102349808G>A	ENST00000422945.2	+	7	727	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PPP2R5C_ENST00000334743.5_Missense_Mutation_p.D180N|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.D180N|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.D180N|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.D235N|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.D180N	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	180					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCGGGAGAGAGATTTTCTTAA	0.388000													20	60					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148392270	148392270	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:148392270G>C	ENST00000538184.1	-	9	2610	c.1722C>G	c.(1720-1722)atC>atG	p.I574M	SH3TC2_ENST00000515425.1_Missense_Mutation_p.I1027M|SH3TC2_ENST00000512049.1_Missense_Mutation_p.I1020M			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1027							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTCCTTGATGCATGTGA	0.577000													7	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632801	179632801	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:179632801G>C	ENST00000589042.1	-	39	9469	c.9245C>G	c.(9244-9246)tCt>tGt	p.S3082C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S3082C|TTN_ENST00000342992.6_Missense_Mutation_p.S3082C|TTN_ENST00000359218.5_Missense_Mutation_p.S3036C|TTN_ENST00000460472.2_Missense_Mutation_p.S3036C|TTN_ENST00000360870.5_Missense_Mutation_p.S3082C|TTN_ENST00000342175.6_Missense_Mutation_p.S3036C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2819	Ig-like 18.						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)			GTCAGGTTCAGAAACTTCACA	0.408000													8	42					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640078	207640078	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:207640078C>T	ENST00000367057.3	+	2	455	c.266C>T	c.(265-267)tCt>tTt	p.S89F	CR2_ENST00000367059.3_Missense_Mutation_p.S89F|CR2_ENST00000458541.2_Missense_Mutation_p.S89F|CR2_ENST00000367058.3_Missense_Mutation_p.S89F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	89	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.S89Y(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AATAAATATTCTTCTTGCCCT	0.398000													22	48					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63545652	63545652	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:63545652C>T	ENST00000307078.5	-	3	1255	c.942G>A	c.(940-942)atG>atA	p.M314I	AXIN2_ENST00000375702.5_Missense_Mutation_p.M314I|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	314					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCTGTCCGTCATGGACATGG	0.542000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	14					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176117	8176117	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:8176117G>A	ENST00000520004.1	-	6	4032	c.3768C>T	c.(3766-3768)ctC>ctT	p.L1256L	SGK223_ENST00000330777.4_Silent_p.L1256L			Q86YV5	SG223_HUMAN		1256	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTCGTAGATGAGGATGCCTG	0.652000													4	16					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950806	12950806	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:12950806C>T	ENST00000273221.4	-	11	2803	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	863	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTGGACTTCCGCAATGGAC	0.537000													39	90					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51219555	51219555	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:51219555C>G	ENST00000293441.1	-	2	454	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.E146Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.E146Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	146					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)		ACCCCCTTCTCAAAGGACTGG	0.582000													4	19					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39945497	39945497	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:39945497G>A	ENST00000564288.1	+	98	22763	c.21986G>A	c.(21985-21987)aGa>aAa	p.R7329K	MACF1_ENST00000317713.7_Missense_Mutation_p.R5241K|MACF1_ENST00000289893.4_Missense_Mutation_p.R5749K|MACF1_ENST00000361689.2_Missense_Mutation_p.R5241K|MACF1_ENST00000539005.1_Missense_Mutation_p.R5111K|MACF1_ENST00000545844.1_Missense_Mutation_p.R5241K|MACF1_ENST00000372915.3_Missense_Mutation_p.R7199K|MACF1_ENST00000567887.1_Missense_Mutation_p.R7366K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7199	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTGAACTTAGAGAGAAATTC	0.458000													16	23					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90383913	90383913	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:90383913C>T	ENST00000369393.3	-	79	13272	c.13157G>A	c.(13156-13158)aGa>aAa	p.R4386K	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4386K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4386					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTGTTAATCTCGTAGTTGA	0.453000													3	26					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8132718	8132718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:8132718G>A	ENST00000315684.8	-	19	3065	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1020					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AATGGGGACTGACCACCCTGC	0.527000													15	58					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928092	196928092	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:196928092G>T	ENST00000367415.5	+	5	795	c.695G>T	c.(694-696)aGa>aTa	p.R232I	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.R216I|CFHR2_ENST00000367421.3_Missense_Mutation_p.R232I	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CTTTATTCAAGAACAGGTGAC	0.308000													23	39					5.35356e-11	5.73654e-11	1	1	0
SSSCA1	10534	broad.mit.edu	37	11	65338426	65338426	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:65338426G>C	ENST00000531405.1	+	2	366	c.130G>C	c.(130-132)Gat>Cat	p.D44H	SSSCA1_ENST00000527920.1_Missense_Mutation_p.D44H|SSSCA1_ENST00000526877.1_Missense_Mutation_p.W75C|SSSCA1_ENST00000309328.3_Missense_Mutation_p.D81H			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	81					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CTCAGACGTGGATAAAGATAA	0.517000													5	55					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42045002	42045002	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:42045002C>A	ENST00000220809.4	-	6	709	c.453G>T	c.(451-453)tgG>tgT	p.W151C	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.W151C|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.W105C|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.W151C	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	151	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGCTGCTGTTCCAGTTGGTGC	0.652000													4	33					1.024e-07	1.07919e-07	1	1	0
POLG	5428	broad.mit.edu	37	15	89865192	89865192	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:89865192C>T	ENST00000268124.5	-	15	2814		c.e15+1		POLG_ENST00000442287.2_Splice_Site	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma						base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCAGACCATACCTGATCACAG	0.587000								DNA polymerases (catalytic subunits)					10	27					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437939	43437939	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:43437939C>T	ENST00000282041.5	-	42	7355	c.7321G>A	c.(7321-7323)Gaa>Aaa	p.E2441K	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2441					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGACAGATTCTGTCAGGACG	0.547000													10	25					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169621	10169621	+	RNA	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:10169621G>C	ENST00000495140.1	+	0	2021																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CGACTGCCTGGACAGCTTTGC	0.532000													10	44					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394828	109394828	+	Silent	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:109394828T>C	ENST00000370001.3	-	2	727	c.459A>G	c.(457-459)tcA>tcG	p.S153S	AKNAD1_ENST00000369995.3_Silent_p.S153S|AKNAD1_ENST00000369994.1_Silent_p.S153S|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	153										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TATTATAACATGAAATAATAC	0.398000													11	53					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350043	134350043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:134350043G>T	ENST00000275230.5	-	2	1075	c.920C>A	c.(919-921)tCa>tAa	p.S307*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	307						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAATCCAACTGACTTCAAAAC	0.443000													13	37					9.05144e-12	9.71374e-12	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178408708	178408708	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:178408708G>A	ENST00000448150.3	+	6	1590	c.772G>A	c.(772-774)Gag>Aag	p.E258K	RASAL2_ENST00000462775.1_Missense_Mutation_p.E128K|RASAL2_ENST00000367649.3_Missense_Mutation_p.E276K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	128	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTTCTGCTTTGAGGTAAAAAT	0.388000													8	51					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66698630	66698630	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:66698630C>G	ENST00000247815.4	+	2	366	c.307C>G	c.(307-309)Caa>Gaa	p.Q103E		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	103					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGGAGCTATCAATATCAAGT	0.413000													15	42					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48683024	48683024	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:48683024G>T	ENST00000544264.1	-	25	7944	c.7664C>A	c.(7663-7665)tCt>tAt	p.S2555Y	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2550Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2550					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCAGCCACAGACACAGCCAC	0.627000													10	26					2.17888e-05	2.26577e-05	1	1	0
FAT1	2195	broad.mit.edu	37	4	187539060	187539060	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:187539060C>T	ENST00000441802.2	-	10	8889	c.8680G>A	c.(8680-8682)Gaa>Aaa	p.E2894K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2894	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E2894*(1)|p.E2897*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGATCTTTTCACCATGATCT	0.438000										HNSCC(5;0.00058)			22	22					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411643	63411643	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:63411643G>A	ENST00000330258.3	-	2	1796	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	AMER1_ENST00000403336.1_Silent_p.F508F|AMER1_ENST00000374869.3_Silent_p.F508F	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTGGCTCATAGAACTCATATA	0.517000													7	10					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108138018	108138018	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:108138018G>A	ENST00000278616.4	+	17	2972	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N	ATM_ENST00000452508.2_Missense_Mutation_p.D863N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	863					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CGATTACCCTGATAGTAGTGT	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			14	32					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280427	43280427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:43280427C>T	ENST00000512796.1	+	4	2406	c.907C>T	c.(907-909)Cga>Tga	p.R303*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.R303*			Q8IY84	NIM1_HUMAN		303	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CCGACTCATCCGAGGAGTCCT	0.552000													7	68					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390866	100390866	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:100390866C>T	ENST00000281806.2	-	4	860	c.546G>A	c.(544-546)gaG>gaA	p.E182E	MCHR2_ENST00000369212.2_Silent_p.E182E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	182						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGCACAACTCTCAACACCGT	0.423000													16	40					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129427	46129427	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:46129427G>A	ENST00000371383.2	-	5	1330	c.1070C>T	c.(1069-1071)cCt>cTt	p.P357L	ENPP5_ENST00000230565.3_Missense_Mutation_p.P357L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	357						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCTGAAGGCAGGACCATGGGC	0.418000													61	291					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11998332	11998332	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:11998332C>T	ENST00000356352.2	-	12	3034	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	UPF2_ENST00000357604.5_Missense_Mutation_p.R854Q|UPF2_ENST00000397053.2_Missense_Mutation_p.R854Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	854	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.R854Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CATTCCTAATCGAATATCTTC	0.383000													6	37					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176983681	176983681	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:176983681G>C	ENST00000249501.4	+	2	1000		c.e2-1		HOXD10_ENST00000490088.2_Splice_Site	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10							nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AATTTTGTTAGAGGAAATCAA	0.358000													13	14					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26869149	26869149	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:26869149C>G	ENST00000381340.3	-	6	968	c.552G>C	c.(550-552)ttG>ttC	p.L184F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	184	MIR 2.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCACAGGCATCAAAACAACTT	0.403000													9	28					0	0	1	0	0
PTRH1	138428	broad.mit.edu	37	9	130476468	130476468	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:130476468C>T	ENST00000419060.1	-	6	2012	c.556G>A	c.(556-558)Gag>Aag	p.E186K	C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_Silent_p.R170R|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000543175.1_Missense_Mutation_p.E186K			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	186					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						GGCAGCAGCTCCTGCTCAGCA	0.672000													5	13					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170070176	170070176	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:170070176G>C	ENST00000263816.3	-	36	6316	c.6031C>G	c.(6031-6033)Cac>Gac	p.H2011D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2011					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCGTCTGTGATAAACTTGA	0.393000													16	68					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397575	42397575	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:42397575C>G	ENST00000225308.8	-	11	1103	c.929G>C	c.(928-930)gGa>gCa	p.G310A	SLC25A39_ENST00000377095.5_Missense_Mutation_p.G318A|SLC25A39_ENST00000590194.1_Missense_Mutation_p.G310A|SLC25A39_ENST00000586016.1_Missense_Mutation_p.G186A|SLC25A39_ENST00000537904.2_Missense_Mutation_p.G295A	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	318					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCAAAGAGTCCCTTGGTGCC	0.667000													9	29					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32929050	32929050	+	Missense_Mutation	SNP	C	C	G	rs80358936		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:32929050C>G	ENST00000544455.1	+	14	7287	c.7060C>G	c.(7060-7062)Caa>Gaa	p.Q2354E	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q2354E	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2354	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CGCACCTGGTCAAGAATTTCT	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	34					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71895083	71895083	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:71895083G>C	ENST00000286648.5	+	7	1168	c.771G>C	c.(769-771)ttG>ttC	p.L257F	DCK_ENST00000504952.1_Missense_Mutation_p.E290Q|DCK_ENST00000504730.1_3'UTR	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	257					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAGAGTTTTTGAGTACTTTGT	0.303000													14	28					0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393540	10393540	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:10393540C>T	ENST00000347364.3	-	3	1385	c.623G>A	c.(622-624)aGa>aAa	p.R208K	MKKS_ENST00000399054.2_Missense_Mutation_p.R208K	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome		Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATCTATAACTCTTTGACCTTT	0.363000													12	24					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27444452	27444452	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:27444452G>A	ENST00000375946.4	+	1	700	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MASTL_ENST00000342386.6_Missense_Mutation_p.E33K|MASTL_ENST00000375940.4_Missense_Mutation_p.E33K	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	33					cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCTCCATTGAGGAATTCAG	0.572000													10	35					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52879364	52879364	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:52879364G>A	ENST00000261844.7	-	11	3013	c.2861C>T	c.(2860-2862)tCa>tTa	p.S954L	FAM214A_ENST00000546305.2_Missense_Mutation_p.S961L|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	954																	TATTGTTCCTGAAGGAGGTAC	0.378000													13	37					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11979065	11979065	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:11979065C>T	ENST00000304030.2	+	3	1381	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	ZNF439_ENST00000455282.1_Missense_Mutation_p.S258F|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TTCACTCGTTCCGGTTCCTTT	0.418000													26	54					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94928743	94928743	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:94928743C>A	ENST00000357742.4	+	13	1777	c.1777C>A	c.(1777-1779)Ccc>Acc	p.P593T	MCTP2_ENST00000451018.3_Missense_Mutation_p.P593T|MCTP2_ENST00000557742.1_Missense_Mutation_p.P181T|MCTP2_ENST00000331706.4_Missense_Mutation_p.P181T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTTGCCATTCCCTTGCTGTC	0.353000													21	44					9.57634e-11	1.02303e-10	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751928	140751928	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140751928C>T	ENST00000576222.1	+	1	2098	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTTTCAGCCACCGTCATG	0.632000													11	36					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113770090	113770090	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:113770090G>C	ENST00000375581.3	+	6	582	c.547G>C	c.(547-549)Gac>Cac	p.D183H	F7_ENST00000541084.1_Missense_Mutation_p.D114H|F7_ENST00000346342.3_Missense_Mutation_p.D161H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	183	EGF-like 2.		D -> N (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TCTGCTGGCAGACGGGGTGTC	0.587000													14	8					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939629	150939629	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:150939629C>T	ENST00000392811.2	-	6	952	c.478G>A	c.(478-480)Gag>Aag	p.E160K	SMARCD3_ENST00000262188.8_Missense_Mutation_p.E173K|SMARCD3_ENST00000356800.2_Missense_Mutation_p.E160K|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	173					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGAATCCTCAGCATCAGGC	0.572000													22	63					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27107180	27107180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:27107180C>A	ENST00000324856.7	+	20	7162	c.6791C>A	c.(6790-6792)tCa>tAa	p.S2264*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S2047*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S1881*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.S592*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2264					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.L2259fs*2(1)|p.S2264*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATCTCGGTATCACCGTTGATG	0.547000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								32	35					2.46105e-21	2.69453e-21	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169336623	169336623	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:169336623G>A	ENST00000511577.1	-	22	3162	c.2915C>T	c.(2914-2916)tCa>tTa	p.S972L	DDX60L_ENST00000505890.1_Missense_Mutation_p.S972L|DDX60L_ENST00000260184.7_Missense_Mutation_p.S972L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	972							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATGTTTTACTGAACATATATG	0.323000													3	21					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91940437	91940437	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:91940437C>T	ENST00000375807.3	+	3	349	c.278C>T	c.(277-279)tCt>tTt	p.S93F	SECISBP2_ENST00000339901.4_Intron|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.S25F	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	93					translation	nucleus	mRNA 3'-UTR binding	p.S93C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TATGCCTATTCTCCTTATACC	0.408000													14	104					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029492	32029492	+	Missense_Mutation	SNP	C	C	G	rs56144119		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:32029492C>G	ENST00000375244.3	-	21	7375	c.7174G>C	c.(7174-7176)Gag>Cag	p.E2392Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2392Q			P22105	TENX_HUMAN	tenascin XB	2452	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCTTCCTCTGCAGCTGAG	0.617000													10	45					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69366758	69366758	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:69366758G>A	ENST00000306875.4	-	4	1555	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.R481C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	481					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCTTCAGCGCGATGGAAGGCC	0.507000													18	19					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56614418	56614418	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:56614418G>A	ENST00000587279.1	-	2	257	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	ZNF787_ENST00000270459.3_Intron			Q6DD87	ZN787_HUMAN	zinc finger protein 787	0	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGAAAACAGGGAAGGGGGGTT	0.677000													5	3					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169792600	169792600	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:169792600C>T	ENST00000286031.6	+	10	1535	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.L250F|C1orf112_ENST00000456684.1_Missense_Mutation_p.L337F|C1orf112_ENST00000359326.4_Missense_Mutation_p.L279F	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	279										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAACTGTATCTTCAGATACA	0.333000													26	125					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174299	78174299	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:78174299C>T	ENST00000216489.3	-	1	64	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	17					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCCCGGGCTCAGTCGCCAGA	0.642000													14	31					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91185343	91185343	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:91185343G>A	ENST00000420329.2	+	15	1975	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.E611K	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	611					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCCTCTGTTGAAGAGACGTT	0.493000			T	MAML2	salivary gland mucoepidermoid								8	22					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6281307	6281307	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:6281307G>A	ENST00000525462.1	+	1	152	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CCKBR_ENST00000532715.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.R50Q|CCKBR_ENST00000531712.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000525014.1_Missense_Mutation_p.R50Q			P32239	GASR_HUMAN	cholecystokinin B receptor	50					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCGGGACACGAGGTGGGTGC	0.647000													3	4					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180772645	180772645	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:180772645C>A	ENST00000367590.4	+	4	543	c.345C>A	c.(343-345)ttC>ttA	p.F115L	XPR1_ENST00000367589.3_Missense_Mutation_p.F115L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	115	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGCCAGTCTTCCACTTGTCCC	0.458000													23	90					4.26978e-12	4.59621e-12	1	1	0
SCAPER	49855	broad.mit.edu	37	15	77057685	77057685	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:77057685G>A	ENST00000538941.2	-	13	1807	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	SCAPER_ENST00000563290.1_Missense_Mutation_p.R536C|SCAPER_ENST00000324767.7_Missense_Mutation_p.R536C	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	535						endoplasmic reticulum|nucleus	zinc ion binding	p.R536C(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GACCTTTTACGAGAGGGTGAA	0.413000													5	12					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847632	46847632	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:46847632G>A	ENST00000283296.7	-	9	1247	c.959C>T	c.(958-960)tCg>tTg	p.S320L	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.S320L|GPR116_ENST00000265417.7_Missense_Mutation_p.S320L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	320	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGTGTAAATCGAGAATCTGCT	0.468000													28	82					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174815023	174815023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:174815023C>T	ENST00000454872.1	+	2	615	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	163					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTTGATCCTCAGTTATATCA	0.358000													22	71					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077608	56077608	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:56077608C>G	ENST00000394252.3	+	2	719	c.510C>G	c.(508-510)ctC>ctG	p.L170L		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	170							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GAGGTGTGCTCTTTTTCTGGG	0.537000													21	12					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279200	16279200	+	Silent	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:16279200A>G	ENST00000343518.6	-	4	1074	c.1023T>C	c.(1021-1023)taT>taC	p.Y341Y		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	341										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TATACCTTCCATATCTATCCA	0.318000													13	170					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158189	58158189	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:58158189G>C	ENST00000228606.4	-	6	1317	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	370					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	ACCGCCTTCAGCAGGGGCAGC	0.597000													20	58					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638126	3638126	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:3638126C>T	ENST00000263087.4	-	21	2738	c.2640G>A	c.(2638-2640)ttG>ttA	p.L880L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	880					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCATCCTCTTCAACTGCAGGT	0.537000													23	105					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104571705	104571705	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:104571705C>T	ENST00000551177.1	+	10	1183	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	ASPG_ENST00000546892.2_Missense_Mutation_p.S364L|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.S364L	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	364					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						ACGCCACCCTCGGTGGAAGAG	0.667000													5	11					0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138760771	138760771	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:138760771C>T	ENST00000302060.5	-	5	672	c.592G>A	c.(592-594)Gac>Aac	p.D198N		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	198					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGTAAGTGTCATCTGTCACA	0.438000													28	69					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831004	58831004	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:58831004G>C	ENST00000355431.3	+	20	2570	c.2197G>C	c.(2197-2199)Gat>Cat	p.D733H	ARID4A_ENST00000348476.3_Missense_Mutation_p.D733H|ARID4A_ENST00000395168.3_Missense_Mutation_p.D733H|ARID4A_ENST00000431317.2_Missense_Mutation_p.D733H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	733					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATAAGCTAGATGAAGAAAA	0.289000													21	59					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477335	28477335	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:28477335G>A	ENST00000373857.3	-	2	832	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PTAFR_ENST00000539896.1_Silent_p.F66F|PTAFR_ENST00000305392.3_Silent_p.F66F	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	66				F -> L (in Ref. 6; AAA60108).	chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGATCAAGAAGAGCATGT	0.493000													9	46					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832607	42832607	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:42832607C>A	ENST00000314073.5	+	13	2839	c.2663C>A	c.(2662-2664)tCt>tAt	p.S888Y	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S888Y					GLTSCR1-like																		ATCGTGGTCTCTGCAGAAGGA	0.493000													9	36					0.00448238	0.00454697	1	1	0
APPL1	26060	broad.mit.edu	37	3	57272079	57272079	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:57272079C>T	ENST00000288266.3	+	4	367	c.220C>T	c.(220-222)Cca>Tca	p.P74S		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	74	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCAGCGTTTTCCATTGGGAGG	0.308000													5	49					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159361	123159361	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:123159361C>T	ENST00000264501.4	+	28	4062	c.3689C>T	c.(3688-3690)tCc>tTc	p.S1230F	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1230F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1230F			Q2LD37	K1109_HUMAN	KIAA1109	1230	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATAGTTCATCCTCTTCCTCA	0.413000													22	34					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072352	34072352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:34072352G>A	ENST00000254466.6	-	6	2191	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.Q706*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	722					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCCTCCCTGAGGTGGGACC	0.622000													25	79					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032044	197032044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:197032044G>A	ENST00000367412.1	-	2	251	c.208C>T	c.(208-210)Caa>Taa	p.Q70*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	70	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGCTCTTCTTGTCTTCCACTT	0.388000													60	67					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555455	155555455	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:155555455G>A	ENST00000295101.2	+	1	645	c.168G>A	c.(166-168)caG>caA	p.Q56Q	KCNJ3_ENST00000544049.1_Silent_p.Q56Q	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	56					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCAATGTACAGCACGGCAACC	0.617000													3	35					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824558	224824558	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:224824558G>A	ENST00000258383.3	+	2	556	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	163	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCTCACTGGTGAGGAAGTCGT	0.463000													6	44					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049767	63049767	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:63049767C>G	ENST00000439174.2	-	2	608	c.363G>C	c.(361-363)aaG>aaC	p.K121N	GNA13_ENST00000541118.1_Missense_Mutation_p.K26N	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	121					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.K121K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						ACGACATCATCTTATCTCCAT	0.448000													47	192					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815941	56815941	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:56815941C>T	ENST00000229201.4	-	20	2624	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E825K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	825					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCTCTTCTTCGGGGCTCCAT	0.532000													10	31					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085164	80085164	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:80085164C>T	ENST00000466387.1	+	8	1048	c.324C>T	c.(322-324)tcC>tcT	p.S108S	CTNNA2_ENST00000361291.4_Silent_p.S142S|CTNNA2_ENST00000541047.1_Silent_p.S108S|CTNNA2_ENST00000540488.1_Silent_p.S108S|CTNNA2_ENST00000402739.4_Silent_p.S108S|CTNNA2_ENST00000496558.1_Silent_p.S108S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	108					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCGCCTCCTCCGAGTTTGCAG	0.587000													8	115					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933840	22933840	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:22933840G>C	ENST00000313077.7	+	8	884	c.759G>C	c.(757-759)atG>atC	p.M253I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.M253I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	253					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGAACAGGATGTATTTGACGC	0.507000													5	62					0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245384	40245384	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:40245384C>G	ENST00000381799.5	+	3	1102	c.378C>G	c.(376-378)caC>caG	p.H126Q	RHOH_ENST00000505618.1_Missense_Mutation_p.H126Q	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGCCCCACAGGGCCTCCT	0.582000													10	28					0	0	1	0	0
WDR74	54663	broad.mit.edu	37	11	62600558	62600558	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:62600558C>T	ENST00000525239.1	-	12	1561	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	RP11-727F15.9_ENST00000535817.1_RNA|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.D342N|WDR74_ENST00000525752.1_Missense_Mutation_p.D285N|WDR74_ENST00000529106.1_Missense_Mutation_p.D342N|WDR74_ENST00000311713.7_Missense_Mutation_p.D323N			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	342						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GTCTCTGTGTCTTCTAGGGGC	0.597000													5	28					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519453	52519453	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:52519453C>G	ENST00000270649.6	-	5	1942	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGCATATTTTCTGGCTGAAGG	0.408000													24	60					0	0	1	0	0
YBEY	54059	broad.mit.edu	37	21	47716100	47716100	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:47716100C>T	ENST00000329319.3	+	4	762	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	YBEY_ENST00000397692.1_Missense_Mutation_p.H34Y|YBEY_ENST00000339195.6_Missense_Mutation_p.H79Y|YBEY_ENST00000397691.1_Missense_Mutation_p.H122Y|YBEY_ENST00000397694.1_Missense_Mutation_p.H77Y|YBEY_ENST00000397701.4_Missense_Mutation_p.H122Y	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	122							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						CGGACTCTGTCACTTGCTGGG	0.627000													7	22					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9684823	9684823	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:9684823C>G	ENST00000330255.5	-	2	255	c.243G>C	c.(241-243)ttG>ttC	p.L81F	DHRS7C_ENST00000571134.1_Missense_Mutation_p.L81F	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCACGCTGATCAAGGCATCAT	0.552000													11	35					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223710	118223710	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:118223710C>T	ENST00000402510.2	-	11	1483		c.e11-1			NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210											breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTGAGGAATCTGCACCAAAC	0.423000													34	5					0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3277847	3277847	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:3277847G>A	ENST00000581193.1	+	4	814	c.431G>A	c.(430-432)aGa>aAa	p.R144K	MYL12B_ENST00000584539.1_Missense_Mutation_p.R144K|MYL12B_ENST00000400175.5_Missense_Mutation_p.R144K|MYL12B_ENST00000237500.5_Missense_Mutation_p.R144K	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	144	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GAGCTGTACAGAGAAGCACCT	0.438000													13	56					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743147	31743147	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:31743147G>A	ENST00000375686.3	-	4	810	c.573C>T	c.(571-573)ctC>ctT	p.L191L	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.L191L|VWA7_ENST00000447450.1_Silent_p.L191L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	191						extracellular region											TTGGCCAGAGGAGGTGAGGGT	0.617000													7	13					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188639	140188639	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140188639C>T	ENST00000530339.1	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R623C|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R623C|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTCCGCGTGGGGCT	0.672000													20	53					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780327	121780327	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:121780327G>A	ENST00000261367.7	+	10	3061	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	SNCAIP_ENST00000379538.3_Missense_Mutation_p.E132K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E498K|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E100K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E56K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E545K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E438K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	498					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCAGAGCGCCGAGCGGCAGGG	0.552000													10	40					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7550876	7550876	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:7550876C>G	ENST00000313599.3	-	7	1770	c.1713G>C	c.(1711-1713)gtG>gtC	p.V571V	CD163L1_ENST00000416109.2_Silent_p.V581V|CD163L1_ENST00000396630.1_Silent_p.V571V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	571	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGTTACAATCACATCCTCTC	0.403000													16	55					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43577465	43577465	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:43577465C>G	ENST00000372813.3	-	5	756	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	202					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTTACAAGCTCATTGCCTTCT	0.443000													8	46					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16558560	16558560	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:16558560C>T	ENST00000375599.3	-	5	1179	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	254	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGAGCACTCTCTGGGGGGTTG	0.637000													10	28					0	0	1	0	0
CLEC2D	29121	broad.mit.edu	37	12	9845514	9845514	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:9845514G>A	ENST00000261340.7	+	4	470	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000290855.6_Missense_Mutation_p.E150K|CLEC2D_ENST00000261339.6_Missense_Mutation_p.E113K	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	150	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						AAATGGTACTGAATGGACAAG	0.353000													4	17					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154459057	154459057	+	Missense_Mutation	SNP	G	G	A	rs149390002	byFrequency	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:154459057G>A	ENST00000304760.2	-	4	1213	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	376										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGTGGTCCGAGAGGGCTGG	0.597000													16	58					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114448979	114448979	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:114448979C>T	ENST00000297405.5	-	1	349	c.105G>A	c.(103-105)atG>atA	p.M35I	CSMD3_ENST00000352409.3_Missense_Mutation_p.M35I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M35I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	35						integral to membrane|plasma membrane		p.M35I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTTTCTTCATCAGGATGA	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	79					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975188	19975188	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:19975188C>T	ENST00000295824.9	-	1	484	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	108					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TAACCCCATTCTTCCTGGCAA	0.478000													17	54					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901051	149901051	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:149901051G>A	ENST00000439741.2	-	17	2350	c.2100C>T	c.(2098-2100)ctC>ctT	p.L700L	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000369140.3_Silent_p.L628L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	700							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCCTGCCTTTGAGAATGCCAG	0.433000													16	127					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103343418	103343418	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:103343418C>T	ENST00000436284.2	-	4	685	c.485G>A	c.(484-486)gGa>gAa	p.G162E	POLL_ENST00000370169.1_Silent_p.G304G|POLL_ENST00000299206.4_Silent_p.G304G|POLL_ENST00000339310.3_Silent_p.G27G|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.G41G|POLL_ENST00000370172.1_Silent_p.G216G|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Silent_p.G29G|POLL_ENST00000370162.3_Silent_p.G304G			Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	0					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCTTCCCAATCCCAGGGATAC	0.547000								DNA polymerases (catalytic subunits)					10	10					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107181	20107181	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:20107181C>T	ENST00000294543.6	-	4	312	c.71G>A	c.(70-72)gGg>gAg	p.G24E	TMCO4_ENST00000375122.2_Missense_Mutation_p.G24E|TMCO4_ENST00000375127.1_Missense_Mutation_p.G24E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	24						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTGTGGCTCCCCCTCTGCAGT	0.627000													6	15					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148346621	148346621	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:148346621G>C	ENST00000369202.1	-	2	333	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	NBPF20_ENST00000414710.2_Missense_Mutation_p.Q46E					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CCGGCCAGTTGAGTTACAAAA	0.453000													46	402					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151909155	151909155	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:151909155A>T	ENST00000370287.3	+	5	512	c.184A>T	c.(184-186)Aaa>Taa	p.K62*	CSAG1_ENST00000452779.2_Nonsense_Mutation_p.K62*|CSAG1_ENST00000370291.2_3'UTR	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	62			K -> R (in dbSNP:rs2515848).							central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACAACCCAAAAGGGAAAA	0.522000													47	9					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94112977	94112977	+	Missense_Mutation	SNP	C	C	G	rs79565505		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:94112977C>G	ENST00000553484.1	+	37	6405	c.6251C>G	c.(6250-6252)tCt>tGt	p.S2084C	UNC79_ENST00000256339.4_Missense_Mutation_p.S1885C|UNC79_ENST00000555664.1_Missense_Mutation_p.S2023C|UNC79_ENST00000393151.2_Missense_Mutation_p.S2062C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2062						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTACCTTTTCTAATCAAGCA	0.413000													8	24					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900356	4900356	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:4900356G>C	ENST00000404991.1	-	1	1269	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	361					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAGCTTCAAAGAGTTTGGACC	0.418000													25	65					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12640575	12640575	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:12640575C>T	ENST00000376223.2	-	2	698	c.315G>A	c.(313-315)caG>caA	p.Q105Q	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	105					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCTTGGCCGTCTGGTACACCT	0.562000													4	36					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53221415	53221415	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:53221415A>G	ENST00000394729.2	+	14	1740	c.1412A>G	c.(1411-1413)tAc>tGc	p.Y471C	PRKCD_ENST00000330452.3_Missense_Mutation_p.Y471C	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	471	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGCATCATTTACAGGTGCGGG	0.557000													11	45					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96518924	96518924	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:96518924C>T	ENST00000509481.1	+	4	786	c.245C>T	c.(244-246)tCt>tTt	p.S82F	RIOK2_ENST00000283109.3_5'UTR|RIOK2_ENST00000508447.1_5'UTR																urinary_tract(1)	1						CCAGATGCCTCTCCGACGACA	0.577000													28	63					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546147	11546147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:11546147G>A	ENST00000389362.4	-	3	900	c.865C>T	c.(865-867)Caa>Taa	p.Q289*	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGCCTCCTTGTGGGGGTGGT	0.617000													86	89					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	133014902	133014902	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:133014902G>A	ENST00000254624.5	+	21	2484	c.2259G>A	c.(2257-2259)gaG>gaA	p.E753E	EFR3A_ENST00000334503.4_Silent_p.E753E|EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Silent_p.E717E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	753						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTGTGATAGAGAAATTTCAGA	0.373000													10	36					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60087972	60087972	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:60087972C>G	ENST00000397786.2	-	9	1982	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	636					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGAATTTATCACTTGGAAGT	0.343000													11	37					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3673382	3673382	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:3673382C>T	ENST00000294600.2	+	4	723	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	213										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCCGGTCACCAGCAGCTCAG	0.567000													12	41					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2317771	2317771	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:2317771G>A	ENST00000222990.3	-	2	306	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	88	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCTTCAGGAAGAGGCCCTTCT	0.592000													11	46					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811407	7811407	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:7811407G>A	ENST00000420658.1	-	9	1260	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	AFAP1_ENST00000360265.4_Silent_p.L330L|AFAP1_ENST00000382543.3_Silent_p.L330L|AFAP1_ENST00000358461.2_Silent_p.L330L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	330						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTCTTTCCCAGACTGATGATC	0.512000													12	30					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529054	40529054	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:40529054G>C	ENST00000447116.2	+	6	1480	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	ZNF619_ENST00000429348.2_Missense_Mutation_p.K351N|ZNF619_ENST00000314686.5_Missense_Mutation_p.K335N|ZNF619_ENST00000432264.2_Missense_Mutation_p.K351N|ZNF619_ENST00000522736.1_Missense_Mutation_p.K342N|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.K307N|ZNF619_ENST00000521353.1_Missense_Mutation_p.K391N	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	391					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGTGTGGGAAGAGTTTGAGTT	0.448000													10	51					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43541290	43541290	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:43541290G>A	ENST00000400424.2	+	16	2963	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E	UMODL1_ENST00000408989.2_Missense_Mutation_p.G1056E|UMODL1_ENST00000408910.2_Missense_Mutation_p.G928E|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.G984E	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCGAGGGAGGAGCCCCCGAC	0.488000													21	51					0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15675178	15675178	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:15675178G>A	ENST00000300006.4	+	4	768	c.409G>A	c.(409-411)Gag>Aag	p.E137K	C16orf45_ENST00000452191.2_Missense_Mutation_p.E120K|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_Missense_Mutation_p.E137K|C16orf45_ENST00000561692.1_Missense_Mutation_p.E89K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	137										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TGCGGAGGTCGAGCGGTTAAG	0.537000													11	12					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128807777	128807777	+	Missense_Mutation	SNP	G	G	C	rs138185535		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:128807777G>C	ENST00000270861.5	+	5	1526	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	PLK4_ENST00000507249.1_Missense_Mutation_p.E418Q|PLK4_ENST00000514379.1_Missense_Mutation_p.E377Q|PLK4_ENST00000513090.1_Missense_Mutation_p.E386Q|PLK4_ENST00000515069.1_Missense_Mutation_p.E418Q	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	418					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGAAAATGAAGAGAGGTACTC	0.373000													7	24					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179259	34179259	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:34179259C>T	ENST00000266483.2	+	3	1150	c.831C>T	c.(829-831)ggC>ggT	p.G277G	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	277					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGTTATTGGCGATCGGAGTA	0.378000													51	78					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417424	150417424	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:150417424G>A	ENST00000307194.5	+	3	472	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGCCCCCGGACCCCACGCG	0.632000													9	26					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139830	178139830	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:178139830C>G	ENST00000335815.2	-	5	1246	c.1049G>C	c.(1048-1050)aGa>aCa	p.R350T		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	350					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGACTTCTTTCTAGAATGAAT	0.388000													17	47					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5781607	5781607	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:5781607C>G	ENST00000328090.5	+	13	2099	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	492																	TTCAAAGCTTCAATCAGAAAT	0.348000													12	53					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799483	212799483	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:212799483G>C	ENST00000294829.3	+	1	1695	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	422										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGGCTGCAAGGAGGGGAGGGA	0.617000													6	12					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67765893	67765893	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:67765893C>T	ENST00000227471.2	-	6	796	c.717G>A	c.(715-717)atG>atA	p.M239I	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	239					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GGAAATAAATCATGGGCAGCT	0.567000													12	89					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988242	113988242	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:113988242C>T	ENST00000297405.5	-	7	1410	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	CSMD3_ENST00000343508.3_Missense_Mutation_p.R349K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R389K|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	389						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCGGAAAGTCTATGGATGGT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179464137	179464137	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:179464137C>G	ENST00000589042.1	-	290	56607	c.56383G>C	c.(56383-56385)Gaa>Caa	p.E18795Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17154Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16227Q|TTN_ENST00000359218.5_Missense_Mutation_p.E9855Q|TTN_ENST00000460472.2_Missense_Mutation_p.E9730Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9922Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17154	Fibronectin type-III 36.						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)			GAAACAGATTCAAATTTTATG	0.368000													3	16					0	0	1	0	0
C16orf91	283951	broad.mit.edu	37	16	1470094	1470094	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:1470094C>T	ENST00000310355.1	-	5	920	c.921G>A	c.(919-921)gtG>gtA	p.V307V	C16orf91_ENST00000442039.2_3'UTR|C16orf91_ENST00000563974.1_3'UTR			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCTCCGCCTTCACGCGAATCA	0.557000													8	19					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108955474	108955474	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:108955474C>T	ENST00000505878.1	+	9	1191	c.918C>T	c.(916-918)ttC>ttT	p.F306F	HADH_ENST00000309522.3_Silent_p.F302F|HADH_ENST00000454409.2_Silent_p.F306F|HADH_ENST00000603302.1_Silent_p.F319F|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Silent_p.F378F			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	302					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	AGAACAAGTTCGGCAAGAAGA	0.502000													8	79					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156238106	156238106	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:156238106G>A	ENST00000361813.5	-	8	958	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SMG5_ENST00000368267.5_Missense_Mutation_p.R272W	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	272					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.R272W(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GACAGTTTCCGAGTCTCACAC	0.532000													52	197					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015895	145015895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:145015895G>A	ENST00000369359.4	-	3	444	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.Q136*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q136*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCTGTACCTGAGGGGGTTTC	0.463000			T	PDGFRB	MPD								25	776					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103971478	103971478	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:103971478G>C	ENST00000394785.3	-	5	1135	c.504C>G	c.(502-504)atC>atG	p.I168M	SLC9B2_ENST00000362026.3_Missense_Mutation_p.I168M|SLC9B2_ENST00000503103.1_Missense_Mutation_p.I111M|SLC9B2_ENST00000339611.4_Missense_Mutation_p.I168M|SLC9B2_ENST00000503230.1_Missense_Mutation_p.I111M	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	168					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ACTTGTGCTTGATCTGCACAT	0.408000													14	21					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50249171	50249171	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:50249171G>C	ENST00000298307.5	+	11	1901	c.1040G>C	c.(1039-1041)aGa>aCa	p.R347T	KLHDC2_ENST00000557247.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R347T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	347						nucleus	protein binding	p.R347T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GTCCATCACAGAGCTGTAAGT	0.368000													35	45					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74424975	74424975	+	Silent	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:74424975T>C	ENST00000334571.2	+	5	647	c.607T>C	c.(607-609)Ttg>Ctg	p.L203L	COQ6_ENST00000238709.4_Silent_p.L128L|COQ6_ENST00000394026.4_Silent_p.L178L|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	203					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCAGACCAAATTGTTGGTAGT	0.428000													28	19					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131036167	131036167	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:131036167C>T	ENST00000421699.2	-	2	181	c.169G>A	c.(169-171)Gag>Aag	p.E57K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E45K|GOLGA2_ENST00000490628.1_Missense_Mutation_p.E57K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	57						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTGGTTGTCTCAGGGTTACTG	0.502000													41	104					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70975539	70975539	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:70975539C>T	ENST00000393567.2	-	43	7003	c.6853G>A	c.(6853-6855)Gaa>Aaa	p.E2285K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2285										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGGCCTTGCCTTCTTGCTCC	0.517000													64	79					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251371	35251371	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:35251371G>A	ENST00000329285.8	-	4	708	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ATCTCTTGAGGATCTCTGTGC	0.468000													17	33					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943603	11943603	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:11943603C>T	ENST00000304060.5	+	4	1776	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGACTCACCCTGAAGAGAAA	0.483000													12	46					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283187	5283187	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:5283187G>A	ENST00000546004.1	-	3	900	c.654C>T	c.(652-654)ctC>ctT	p.L218L	PROKR2_ENST00000217270.3_Silent_p.L218L			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	218						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACTTGTAGTAGAGCTGCTGAT	0.532000										HNSCC(71;0.22)			18	28					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694798	111694798	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:111694798C>A	ENST00000435970.1	-	15	5342	c.4526G>T	c.(4525-4527)aGa>aTa	p.R1509I	REV3L_ENST00000368802.3_Missense_Mutation_p.R1587I|REV3L_ENST00000358835.3_Missense_Mutation_p.R1587I|REV3L_ENST00000368805.1_Missense_Mutation_p.R1587I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1587					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTGTACTTCTGGGAGTTCG	0.358000								DNA polymerases (catalytic subunits)					33	127					5.8336e-16	6.34754e-16	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205035605	205035605	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:205035605A>T	ENST00000331830.4	+	15	2137	c.1853A>T	c.(1852-1854)gAc>gTc	p.D618V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	618	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGTGAGGGACATTGGCGAC	0.612000													9	30					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942450	11942450	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:11942450C>T	ENST00000304060.5	+	4	623	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAAAGCCTTCAGATACCGCC	0.403000													31	156					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6913663	6913663	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:6913663G>C	ENST00000312053.4	+	11	1159		c.e11-1		EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000381407.5_Splice_Site|EMR1_ENST00000450315.3_Splice_Site|EMR1_ENST00000250572.8_Splice_Site	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTCCTTGCAGAATACAACTG	0.433000													9	20					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694373	111694373	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:111694373C>G	ENST00000435970.1	-	15	5767	c.4951G>C	c.(4951-4953)Gag>Cag	p.E1651Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E1729Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E1729Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E1729Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1729					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTGACTTCTCAAAAATTTCA	0.383000								DNA polymerases (catalytic subunits)					27	94					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34317447	34317447	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:34317447G>A	ENST00000361162.6	-	5	683	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RBM39_ENST00000253363.6_Missense_Mutation_p.S100F|RBM39_ENST00000528062.3_Intron|RBM39_ENST00000407261.4_5'UTR	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	100					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTTGGTCCGGAGCTAAAAAG	0.373000													8	42					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27013384	27013384	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:27013384T>C	ENST00000314616.6	+	20	2798	c.2515T>C	c.(2515-2517)Ttt>Ctt	p.F839L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.F839L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	839					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTAAAGAAATTTCTCCTGAA	0.433000													12	32					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319266	19319266	+	Silent	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:19319266C>A	ENST00000461366.1	+	14	1889	c.1674C>A	c.(1672-1674)ctC>ctA	p.L558L		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	558							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGCCGGGCTCATGGGCCTGG	0.687000													3	10					0.00024832	0.000255581	1	1	0
ZNF721	170960	broad.mit.edu	37	4	435694	435694	+	Silent	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:435694T>C	ENST00000338977.5	-	2	2574	c.2526A>G	c.(2524-2526)gtA>gtG	p.V842V	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.V854V|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCTCCTATGTACATAAAGGA	0.393000													34	35					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43096795	43096795	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:43096795G>A	ENST00000230419.4	+	2	381	c.160G>A	c.(160-162)Gag>Aag	p.E54K	PTK7_ENST00000352931.2_Missense_Mutation_p.E54K|PTK7_ENST00000481273.1_Missense_Mutation_p.E62K|PTK7_ENST00000471863.1_Missense_Mutation_p.E54K|PTK7_ENST00000345201.2_Missense_Mutation_p.E54K|PTK7_ENST00000476760.1_Missense_Mutation_p.E54K|PTK7_ENST00000349241.2_Missense_Mutation_p.E54K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	54	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCTTCGCTGTGAGGTTGAGGC	0.642000													21	20					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37454970	37454970	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:37454970C>T	ENST00000234170.5	-	2	1511	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	456					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAGCCAATTCACTTTCTTCA	0.343000													11	58					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575281	61575281	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:61575281C>T	ENST00000398571.2	-	15	2085	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTTCCTGTTCCGCTGCTTGT	0.458000													13	46					0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116649733	116649733	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:116649733G>A	ENST00000227322.3	-	14	1347	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	430					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CGCTTGTAACGCTCCACCTTC	0.552000													17	12					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712268	10712268	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:10712268C>G	ENST00000345985.3	-	20	1956	c.1846G>C	c.(1846-1848)Gaa>Caa	p.E616Q	NOL10_ENST00000381685.5_Missense_Mutation_p.E666Q|NOL10_ENST00000542668.1_Missense_Mutation_p.E616Q|NOL10_ENST00000538384.1_Missense_Mutation_p.E640Q	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	666						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTTTCCTTTCTTGTCGATGC	0.448000													77	121					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967425	4967425	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:4967425C>T	ENST00000380373.2	-	1	931	c.906G>A	c.(904-906)gtG>gtA	p.V302V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACAACTCTCACTCTAATCT	0.363000													17	98					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687343	5687343	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:5687343G>A	ENST00000581521.1	+	8	934	c.459G>A	c.(457-459)ctG>ctA	p.L153L	HSD11B1L_ENST00000339423.2_Silent_p.L153L|HSD11B1L_ENST00000411793.2_Silent_p.L19L|HSD11B1L_ENST00000423665.2_Silent_p.L153L|HSD11B1L_ENST00000577917.1_Silent_p.L72L|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000301382.4_Silent_p.L72L|HSD11B1L_ENST00000581773.1_Silent_p.L153L|HSD11B1L_ENST00000581893.1_Silent_p.L19L|HSD11B1L_ENST00000342970.2_Silent_p.L66L|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000583928.1_Silent_p.L19L			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	153						extracellular region	binding|oxidoreductase activity										TGCCCAGCCTGACGGACAGCA	0.706000													3	25					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428583	135428583	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:135428583G>A	ENST00000394143.1	+	6	3009	c.2718G>A	c.(2716-2718)gtG>gtA	p.V906V	GPR112_ENST00000287534.4_Silent_p.V843V|GPR112_ENST00000370652.1_Silent_p.V906V|GPR112_ENST00000412101.1_Silent_p.V701V|GPR112_ENST00000394141.1_Silent_p.V701V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	906					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTGAGGTGAGAGAAAGTT	0.378000													31	36					0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10363231	10363231	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:10363231C>G	ENST00000393733.2	+	3	156	c.129C>G	c.(127-129)ctC>ctG	p.L43L	MRPL4_ENST00000588502.1_Silent_p.L42L|MRPL4_ENST00000253099.6_Silent_p.L43L|MRPL4_ENST00000590669.1_Silent_p.L43L|MRPL4_ENST00000307422.5_Silent_p.L43L|CTD-2369P2.5_ENST00000592893.1_RNA			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	43					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CTCCAGGTCTCCCGGAGCCCG	0.682000													9	36					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62223292	62223292	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:62223292G>A	ENST00000261517.5	-	50	6108	c.6035C>T	c.(6034-6036)tCg>tTg	p.S2012L	VPS13C_ENST00000249837.3_Missense_Mutation_p.S1969L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2012L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1969L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2012					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GACAAACCTCGATGTTGCTCT	0.433000													19	65					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640681	60640681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:60640681C>T	ENST00000278853.5	+	7	1159	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	387	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTGCCCATTCAGGCATCCAT	0.582000													18	94					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166833425	166833425	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:166833425C>G	ENST00000510118.1	-	20	2180	c.1840G>C	c.(1840-1842)Gat>Cat	p.D614H	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.D500H|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.D589H|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.D500H|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D597H			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	589	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACGCCGCATCATAGCCTTGA	0.562000													6	33					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214860	11214860	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:11214860G>A	ENST00000533467.1	-	1	33	c.34C>T	c.(34-36)Cta>Tta	p.L12L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	12					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ACCACTATTAGAATGGAAAAA	0.328000													6	20					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31106492	31106492	+	Missense_Mutation	SNP	G	G	A	rs151153963	byFrequency	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:31106492G>A	ENST00000259881.9	+	5	392	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000547221.1_5'UTR|PSORS1C1_ENST00000481450.2_Intron	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	35										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CAGCTCCGAGGAAACTCGTCC	0.572000													20	133					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452885	130452885	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:130452885T>C	ENST00000356763.3	-	4	1514	c.957A>G	c.(955-957)atA>atG	p.I319M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	319	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAGTGTAAAATATTTCAGGAA	0.433000													45	64					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449333	155449333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:155449333G>A	ENST00000368346.3	-	3	3967	c.3328C>T	c.(3328-3330)Cag>Tag	p.Q1110*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1110*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1110					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAGAAGACTGAGAGCAAATA	0.478000													24	36					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039493	98039493	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:98039493G>C	ENST00000370192.3	-	11	1262	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	388					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGAATGGCAGAAATTCACAC	0.373000													7	27					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47886423	47886423	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:47886423G>A	ENST00000507489.1	-	15	2032	c.1856C>T	c.(1855-1857)tCt>tTt	p.S619F	NFXL1_ENST00000381538.3_Missense_Mutation_p.S619F|NFXL1_ENST00000329043.3_Missense_Mutation_p.S619F	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	619						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGCTGGCTCAGAAGGCTGTTC	0.343000													17	39					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173819576	173819576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:173819576G>T	ENST00000361951.4	+	13	2030	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	DARS2_ENST00000239457.5_Nonsense_Mutation_p.E17*|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	435					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GACCCAAGAGGAAGATGTGGT	0.403000													5	36					0.000602214	0.000616219	1	1	0
GPR110	266977	broad.mit.edu	37	6	46977491	46977491	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:46977491C>T	ENST00000371253.2	-	11	1895	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	GPR110_ENST00000283297.5_Silent_p.T363T|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	560	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TACATTGGCACGTCACGATGT	0.473000													15	55					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24569158	24569158	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:24569158C>G	ENST00000535378.1	-	14	2607		c.e14-1		KIAA0319_ENST00000543707.1_Splice_Site|KIAA0319_ENST00000430948.2_Splice_Site|KIAA0319_ENST00000378214.3_Splice_Site|KIAA0319_ENST00000537886.1_Splice_Site	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319						negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTGGGGCCTCTATAAAACAT	0.448000													31	38					0	0	1	0	0
COX5A	9377	broad.mit.edu	37	15	75221540	75221540	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:75221540G>A	ENST00000322347.6	-	2	287	c.134C>T	c.(133-135)tCa>tTa	p.S45L	COX5A_ENST00000568783.1_Missense_Mutation_p.S45L|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000562233.1_Missense_Mutation_p.S45L|COX5A_ENST00000564811.1_Missense_Mutation_p.S45L|COX5A_ENST00000568517.1_5'UTR	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	45					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						TGTCTCCTGTGACCCATGGGA	0.393000													19	49					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118486902	118486902	+	Silent	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:118486902C>A	ENST00000361417.2	+	5	742	c.331C>A	c.(331-333)Cgg>Agg	p.R111R	PHLDB1_ENST00000356063.5_Silent_p.R111R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	111	FHA.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTCCCTGTCCGGCAGCCTAC	0.617000													23	23					5.49717e-05	5.70797e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7578388	7578388	+	Missense_Mutation	SNP	C	C	T	rs138525931	by1000genomes	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:7578388C>T	ENST00000420246.2	-	5	674	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000269305.4_Missense_Mutation_p.R181H|TP53_ENST00000445888.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R181H|TP53_ENST00000413465.2_Missense_Mutation_p.R181H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (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.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)		ATCTGAGCAGCGCTCATGGTG	0.637000		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)			17	39					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105850386	105850386	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:105850386G>T	ENST00000282499.5	+	17	3075	c.2629G>T	c.(2629-2631)Gac>Tac	p.D877Y	GRIA4_ENST00000525187.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.D877Y|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_3'UTR	NM_000829.3	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	877					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTTGACGCCTGACTGCCCAAA	0.463000													14	34					6.72482e-11	7.19495e-11	1	1	0
P4HB	5034	broad.mit.edu	37	17	79813391	79813391	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:79813391C>T	ENST00000331483.4	-	3	646	c.424G>A	c.(424-426)Gac>Aac	p.D142N	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Intron|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	142					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCTGCGCCGTCAGGCAGGGTG	0.582000													10	37					0	0	1	0	0
ARV1	64801	broad.mit.edu	37	1	231131640	231131640	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:231131640C>A	ENST00000310256.2	+	4	640	c.583C>A	c.(583-585)Cca>Aca	p.P195T	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Missense_Mutation_p.P155T	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	195					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CTTGCTGATTCCAGCTGTCAT	0.388000													18	55					5.3912e-06	5.62283e-06	1	1	0
HDAC2	3066	broad.mit.edu	37	6	114264556	114264556	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:114264556C>T	ENST00000519065.1	-	12	1713	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	HDAC2_ENST00000368632.2_Missense_Mutation_p.R416K|HDAC2_ENST00000398283.2_Missense_Mutation_p.R540K|HDAC2_ENST00000519108.1_Missense_Mutation_p.R416K			Q92769	HDAC2_HUMAN	histone deacetylase 2	446					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ttcttcaattctagctttctt	0.353000													4	17					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185181410	185181410	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:185181410G>A	ENST00000265026.3	+	8	1685	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	MAP3K13_ENST00000535426.1_Missense_Mutation_p.D307N|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D244N|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D307N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D451N	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	451	Leucine-zipper 1.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACACCGGTTAGATGAAGAACT	0.448000													8	49					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100974962	100974962	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:100974962G>C	ENST00000360863.6	-	26	3937	c.3743C>G	c.(3742-3744)tCt>tGt	p.S1248C	RGS22_ENST00000523437.1_Missense_Mutation_p.S1236C|RGS22_ENST00000523287.1_Missense_Mutation_p.S1067C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1248					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATAGTTGAAGAGCTAGCCTT	0.343000													10	53					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604240	189604240	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:189604240G>A	ENST00000264731.3	+	11	1496	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	TP63_ENST00000392463.2_Missense_Mutation_p.M375I|TP63_ENST00000320472.5_Missense_Mutation_p.M469I|TP63_ENST00000456148.1_Missense_Mutation_p.M371I|TP63_ENST00000382063.4_Missense_Mutation_p.M384I|TP63_ENST00000392461.3_Missense_Mutation_p.M375I|TP63_ENST00000449992.1_Missense_Mutation_p.M290I|TP63_ENST00000354600.5_Missense_Mutation_p.M375I|TP63_ENST00000392460.3_Missense_Mutation_p.M469I|TP63_ENST00000440651.2_Missense_Mutation_p.M465I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	469					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAACAAAATGAACAGCATGA	0.493000										HNSCC(45;0.13)			11	43					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50856379	50856379	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:50856379G>A	ENST00000398473.2	+	12	1461	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	LARP4_ENST00000429001.3_Missense_Mutation_p.R456K|LARP4_ENST00000347328.5_Missense_Mutation_p.R379K|LARP4_ENST00000518444.1_Missense_Mutation_p.R449K|LARP4_ENST00000293618.8_Missense_Mutation_p.R379K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	450							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTCTCTTCAGAGGTCGAAGA	0.388000													7	29					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032559	108032559	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:108032559G>A	ENST00000278612.8	-	17	3359	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1085					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTGTTTTGGGACACCATCTT	0.453000													6	27					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487646	87487646	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:87487646G>A	ENST00000327946.7	-	10	1584	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	GRID1_ENST00000536331.1_Missense_Mutation_p.S71F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	500						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCGTTCCAGGAGGTGTTATG	0.537000										Multiple Myeloma(13;0.14)			18	29					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145384	56145384	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:56145384C>G	ENST00000394555.2	-	3	535	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	EFEMP1_ENST00000394554.1_Missense_Mutation_p.E34Q|EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E34Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	34	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATCCCACTCATATCCGTCA	0.458000													9	63					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12786390	12786390	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:12786390C>T	ENST00000418543.3	+	11	1201	c.852C>T	c.(850-852)gcC>gcT	p.A284A	WDR83_ENST00000242796.4_Silent_p.A284A	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	284					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						AGTCGCTGGCCTACCACCCAA	0.662000											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815426	106815426	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:106815426G>A	ENST00000407775.2	+	8	3366	c.3116G>A	c.(3115-3117)cGa>cAa	p.R1039Q	ZFPM2_ENST00000520492.1_Missense_Mutation_p.R907Q|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R770Q|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R907Q|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1039					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAAAAATCGAGGAATGGTA	0.468000													8	26					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113524291	113524291	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:113524291G>A	ENST00000273398.3	+	14	1788	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Silent_p.Q527Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	560					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACTGCCCAGAGTGACAATA	0.403000													14	53					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558161	140558161	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140558161C>T	ENST00000239444.2	+	1	791	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		182	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGGTCCTCACCCGCAAAC	0.493000													9	196					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557292	187557292	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:187557292G>A	ENST00000441802.2	-	6	4279	c.4070C>T	c.(4069-4071)tCa>tTa	p.S1357L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1357	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTTCAAATGAAATGGGCTC	0.458000										HNSCC(5;0.00058)			6	21					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32271949	32271949	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:32271949C>G	ENST00000382142.3	-	4	518	c.348G>C	c.(346-348)caG>caC	p.Q116H	MTMR12_ENST00000280285.5_Missense_Mutation_p.Q116H|MTMR12_ENST00000264934.5_Missense_Mutation_p.Q116H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	116						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCCATAAATCTGATCAACAC	0.333000													4	25					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99347212	99347212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:99347212G>A	ENST00000369244.2	-	7	1677	c.1249C>T	c.(1249-1251)Caa>Taa	p.Q417*	FBXL4_ENST00000229971.1_Nonsense_Mutation_p.Q417*	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	417					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTGAAAGCTTGAGGTGGTAGC	0.383000													8	43					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191377	8191377	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:8191377C>T	ENST00000600128.1	-	20	2943	c.2529G>A	c.(2527-2529)ggG>ggA	p.G843G	FBN3_ENST00000601739.1_Silent_p.G843G|FBN3_ENST00000270509.2_Silent_p.G843G			Q75N90	FBN3_HUMAN	fibrillin 3	843	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCAGGGGCTCCCCCAGGCTG	0.677000													4	12					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16606664	16606664	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:16606664C>T	ENST00000409035.1	-	8	1924		c.e8-1		CALR3_ENST00000269881.3_Splice_Site																							CTCCAATGCTCTGTGGGGAAG	0.488000													12	49					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36625164	36625164	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:36625164C>T	ENST00000373448.2	-	7	3223	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	TTI1_ENST00000373447.3_Silent_p.E995E|TTI1_ENST00000449821.1_Silent_p.E995E	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	995							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGTCCAGTCTCTCACAGAGGG	0.617000													14	120					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69332421	69332421	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:69332421G>C	ENST00000305363.4	+	3	273	c.209G>C	c.(208-210)aGa>aCa	p.R70T		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	70	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GAGTTTGGCAGAGAGGCTTCT	0.353000													24	218					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644084	207644084	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:207644084G>C	ENST00000367057.3	+	7	1414		c.e7-1		CR2_ENST00000367059.3_Splice_Site|CR2_ENST00000458541.2_Splice_Site|CR2_ENST00000367058.3_Splice_Site	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2						complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTTCATTTAGAATGCCAGGC	0.398000													7	39					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168074102	168074102	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:168074102C>T	ENST00000537209.1	-	3	295	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_5'UTR|GPR161_ENST00000367838.1_5'UTR|GPR161_ENST00000361697.2_5'UTR|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000367835.1_5'UTR	NM_001267609.1	NP_001254538.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	0					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAGTGCACCTCGGCGTGGGGT	0.567000													9	30					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79516982	79516982	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:79516982C>T	ENST00000264908.6	+	9	954	c.575C>T	c.(574-576)aCg>aTg	p.T192M	ANXA3_ENST00000503570.2_Missense_Mutation_p.T153M|ANXA3_ENST00000512884.1_Missense_Mutation_p.T153M	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	192					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGATGGGGCACGGATGAAGAC	0.348000													4	17					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869160	150869160	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:150869160G>A	ENST00000370353.3	+	4	741	c.351G>A	c.(349-351)caG>caA	p.Q117Q	PRRG3_ENST00000538575.1_Silent_p.Q117Q|PRRG3_ENST00000370354.1_3'UTR			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	117						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATGCTCAGAACCGGTACC	0.627000													24	51					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995161	55995161	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:55995161C>T	ENST00000391718.2	+	3	3154	c.2589C>T	c.(2587-2589)ctC>ctT	p.L863L	ZNF628_ENST00000598519.1_Silent_p.L867L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	863						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CGGTCCAGCTCCAGCCCGTGG	0.647000													8	15					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694596	111694596	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:111694596C>G	ENST00000435970.1	-	15	5544	c.4728G>C	c.(4726-4728)caG>caC	p.Q1576H	REV3L_ENST00000368802.3_Missense_Mutation_p.Q1654H|REV3L_ENST00000358835.3_Missense_Mutation_p.Q1654H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1654H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1654			S -> L (in dbSNP:rs3218582).		DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATCCAGTCTGACCTATTG	0.358000								DNA polymerases (catalytic subunits)					9	32					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431712	89431712	+	RNA	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:89431712C>T	ENST00000532352.1	+	0	1994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGACAGATTTCTGTTGCAGCC	0.453000													23	46					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47745972	47745972	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:47745972G>C	ENST00000360380.3	-	13	2521	c.2158C>G	c.(2158-2160)Cca>Gca	p.P720A	STIL_ENST00000243182.6_Missense_Mutation_p.P720A|STIL_ENST00000396221.2_Missense_Mutation_p.P720A|STIL_ENST00000371877.3_Missense_Mutation_p.P720A|STIL_ENST00000337817.5_Missense_Mutation_p.P720A	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	720	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATGCATCTGGAGATAGTCCC	0.448000													14	93					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543644	46543644	+	Translation_Start_Site	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:46543644C>T	ENST00000378921.2	-	0	161				ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1012D|ZC3H13_ENST00000242848.4_Missense_Mutation_p.G1012D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13								nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATCAGAATCACCTTTGGATTT	0.373000													30	12					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52938212	52938212	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:52938212G>C	ENST00000295213.4	+	6	1022	c.648G>C	c.(646-648)caG>caC	p.Q216H	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.Q184H	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	216					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CACTCAAGCAGAATGCAGACC	0.527000													14	26					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76203000	76203000	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:76203000G>A	ENST00000591952.1	+	3	172	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	AFMID_ENST00000409257.5_Silent_p.L298L|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000327898.5_Silent_p.L303L|AFMID_ENST00000588800.1_3'UTR			Q63HM1	AFMID_HUMAN	arylformamidase	0						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGATTATCTTGAAAACAATCT	0.478000													18	85					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118584497	118584497	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:118584497C>G	ENST00000336338.5	-	21	3048	c.2983G>C	c.(2983-2985)Gaa>Caa	p.E995Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	995						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTGTTCTTCTTTAGATTTC	0.393000													36	140					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754240	110754240	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:110754240T>G	ENST00000369787.3	+	1	146	c.119T>G	c.(118-120)aTc>aGc	p.I40S	KCNC4_ENST00000438661.2_Missense_Mutation_p.I40S|KCNC4_ENST00000413138.3_Missense_Mutation_p.I40S	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	40					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGATCATCATCAACGTGGGC	0.677000													4	5					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20082251	20082251	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:20082251C>T	ENST00000263754.4	+	1	737	c.282C>T	c.(280-282)ctC>ctT	p.L94L	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	94					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TGGAGAAACTCGGAGTGTACT	0.706000													10	19					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715783	101715783	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:101715783G>T	ENST00000342239.3	-	4	1539	c.1448C>A	c.(1447-1449)tCt>tAt	p.S483Y	DNMBP_ENST00000324109.4_Missense_Mutation_p.S483Y|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	483					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGCTGAAACAGAAGAGCCCCT	0.468000													24	41					1.1804e-14	1.27846e-14	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196709745	196709745	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:196709745C>T	ENST00000312428.6	-	47	9026	c.8926G>A	c.(8926-8928)Gat>Aat	p.D2976N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2976	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCCATTATCAATGGAAAAT	0.348000													7	10					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8113684	8113684	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:8113684G>A	ENST00000332175.8	+	12	3094	c.2057G>A	c.(2056-2058)gGa>gAa	p.G686E	PTPRM_ENST00000400053.4_Missense_Mutation_p.G624E|PTPRM_ENST00000444013.1_Missense_Mutation_p.G473E|PTPRM_ENST00000400060.4_Missense_Mutation_p.G686E|PTPRM_ENST00000580170.1_Missense_Mutation_p.G686E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	686					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACATATAATGGATACTGGAAC	0.418000													19	122					0	0	1	0	0
ARMC4P1	101060171	broad.mit.edu	37	10	27577652	27577652	+	RNA	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:27577652G>A	ENST00000576034.1	+	0	542																											TAGCTCCTCAGAAAGTGAGGA	0.403000													13	37					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128703790	128703790	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:128703790G>A	ENST00000296464.4	+	1	496	c.85G>A	c.(85-87)Gag>Aag	p.E29K	HSPA4L_ENST00000439123.2_Missense_Mutation_p.E60K|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E29K	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CATCGCCAATGAGTACAGCGA	0.547000											OREG0016319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258010	73258010	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:73258010G>A	ENST00000579761.1	+	1	256	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	MRPS7_ENST00000245539.6_Missense_Mutation_p.R10Q|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000579743.1_Intron|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000578348.1_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	10					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AAGGTTGCCCGAGGATGGTCG	0.697000													4	12					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35606896	35606896	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:35606896C>T	ENST00000336395.5	+	4	703	c.453C>T	c.(451-453)gtC>gtT	p.V151V	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	151	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGGCCGGTCAGGCTCCACC	0.577000													7	30					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545645	94545645	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:94545645G>A	ENST00000330836.5	-	2	575	c.444C>T	c.(442-444)gtC>gtT	p.V148V	DDX24_ENST00000555054.1_Silent_p.V105V|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	148					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GAGCAGTTTGGACCAGGTTTT	0.468000													40	26					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123713	40123713	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:40123713G>A	ENST00000261435.6	+	9	4398	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1328						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.E1328K(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCAGATGAAGAAGAATTTAT	0.289000													13	49					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860965	67860965	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:67860965G>C	ENST00000388833.3	+	13	1869	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E552Q|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E483Q	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	498					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		ACTAACCATGGAGCAGTTCAA	0.552000													8	9					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066662	18066662	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:18066662C>T	ENST00000506618.2	-	1	824	c.744G>A	c.(742-744)ttG>ttA	p.L248L		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	248					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)					TTCCATGAGTCAAGATAGCAT	0.458000													14	60					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449292	91449292	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:91449292G>C	ENST00000266719.3	-	2	1014	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	256					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAATCCTCTTGATGGGAGACC	0.393000													20	55					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1432644	1432644	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:1432644G>C	ENST00000382179.1	+	1	263	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	BRSK2_ENST00000308219.9_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000528841.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000528710.1_Intron	NM_001256630.1	NP_001243559.1	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	0					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CATGAGCCCTGAGGGCCACCC	0.697000													8	7					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46725691	46725691	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:46725691C>G	ENST00000371975.4	+	5	1001	c.327C>G	c.(325-327)ctC>ctG	p.L109L	RAD54L_ENST00000442598.1_Silent_p.L109L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	109					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCCGGGCCCTCCATGACCCCC	0.537000								Direct reversal of damage;Homologous recombination					14	133					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47685907	47685907	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:47685907T>C	ENST00000397708.1	-	12	3217	c.2963A>G	c.(2962-2964)aAg>aGg	p.K988R	MCM3AP_ENST00000291688.1_Missense_Mutation_p.K988R			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	988					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCCGATGTACTTGTTCTGGGA	0.617000													17	62					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37976075	37976075	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:37976075G>C	ENST00000330173.1	+	5	2080	c.1551G>C	c.(1549-1551)caG>caC	p.Q517H	ZNF570_ENST00000586475.1_Missense_Mutation_p.Q573H|ZNF570_ENST00000388801.3_Missense_Mutation_p.Q314H	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCATCACCAGAGAATTCACA	0.433000													10	20					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100957932	100957932	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:100957932C>T	ENST00000369162.2	-	41	6681	c.6337G>A	c.(6337-6339)Gaa>Aaa	p.E2113K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2113	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACCATCCTTCGTCTTTTGAT	0.353000													48	133					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55563951	55563951	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:55563951C>G	ENST00000436346.1	-	14	2363	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E508Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E508Q|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E508Q|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	508					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCAAGAATCTCAACCTAGAGA	0.299000													19	43					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675858	22675858	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:22675858G>C	ENST00000376603.2	+	5	1018	c.876G>C	c.(874-876)caG>caC	p.Q292H	SPAG6_ENST00000313311.6_Missense_Mutation_p.Q216H|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q191H|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q216H|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	216					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						ATTTAGCCCAGATGATCCTGA	0.403000													8	52					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684176	113684176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:113684176C>T	ENST00000295878.3	-	17	2783	c.2637G>A	c.(2635-2637)tgG>tgA	p.W879*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	879										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CAAACTTCTTCCATGTCCGAA	0.378000													15	52					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92615951	92615951	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:92615951G>A	ENST00000298047.6	+	23	12346	c.12329G>A	c.(12328-12330)gGa>gAa	p.G4110E	FAT3_ENST00000533797.1_Missense_Mutation_p.G445E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3960E|FAT3_ENST00000409404.2_Missense_Mutation_p.G4110E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4110	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGAGAACGGAGGCTCCTGC	0.627000										TCGA Ovarian(4;0.039)			3	8					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177715338	177715338	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:177715338C>T	ENST00000390654.3	-	5	785	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	143	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding	p.R143L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GTAGCCATCTCGTCCTGATTG	0.418000													18	63					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709177	77709177	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:77709177C>T	ENST00000328313.5	+	3	956	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	245					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATCACATCCGACCACGGCA	0.617000													8	64					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805568	167805568	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:167805568G>A	ENST00000367848.1	-	23	3509	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	ADCY10_ENST00000545172.1_Silent_p.L943L|ADCY10_ENST00000367851.4_Silent_p.L1096L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1096					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CACAAAAGATGAGATAAGCAG	0.428000													4	22					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12639522	12639522	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:12639522G>A	ENST00000425538.1	+	6	660	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	AC005358.1_ENST00000609971.1_Missense_Mutation_p.E58K|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.E154K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	154	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTTTGCCTTTGAAGAGGACAG	0.532000													29	138					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272540	158272540	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:158272540C>G	ENST00000264192.3	-	8	850	c.729G>C	c.(727-729)gaG>gaC	p.E243D	CYTIP_ENST00000540637.1_Missense_Mutation_p.E137D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	243	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TACAGCTGCTCTCACTGGATA	0.562000													6	17					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60468498	60468498	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:60468498G>A	ENST00000300226.2	+	2	368	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		GTTTGGTGTCGAATGTGAATG	0.527000													17	49					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38891939	38891939	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:38891939G>T	ENST00000396821.3	-	6	841	c.742C>A	c.(742-744)Cta>Ata	p.L248I	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.L169I	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	169	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCCAGAACTAGACACTGAAAC	0.363000													9	25					7.48243e-07	7.85042e-07	1	1	0
NRIP1	8204	broad.mit.edu	37	21	16337172	16337172	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:16337172C>T	ENST00000400202.1	-	3	4054	c.3342G>A	c.(3340-3342)acG>acA	p.T1114T	NRIP1_ENST00000318948.4_Silent_p.T1114T|NRIP1_ENST00000400199.1_Silent_p.T1114T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1114					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.T1114T(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGAAGCTTTCGTTTCTGCAG	0.438000													26	60					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712664	128712664	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:128712664G>A	ENST00000357702.5	-	16	2527	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	SAP130_ENST00000259234.6_Missense_Mutation_p.S772L|SAP130_ENST00000259235.3_Missense_Mutation_p.S764L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	764	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CACAGTGACTGATGGAGGTGG	0.547000													12	41					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182583247	182583247	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:182583247G>A	ENST00000323116.5	+	13	1464	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	402					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTATAGGTAGAGTACGTGTT	0.353000													9	38					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137223031	137223031	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:137223031G>A	ENST00000239926.4	+	10	1828	c.1454G>A	c.(1453-1455)cGt>cAt	p.R485H	MYOT_ENST00000515645.1_Missense_Mutation_p.R370H|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.R301H|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	485	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAATTTCAGCGTTTGGCAGCT	0.358000													7	39					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186362658	186362658	+	Silent	SNP	G	G	A	rs148507156	byFrequency	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:186362658G>A	ENST00000265029.3	+	4	644	c.543G>A	c.(541-543)gaG>gaA	p.E181E	RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Silent_p.E144E|FETUB_ENST00000450521.1_Silent_p.E181E|FETUB_ENST00000539949.1_Silent_p.E33E|FETUB_ENST00000382134.3_Silent_p.E116E	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	181	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity	p.E181D(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACAACAATGAGAACACATCCA	0.498000													8	58					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184612514	184612514	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:184612514G>C	ENST00000334690.6	+	19	2141	c.1939G>C	c.(1939-1941)Gaa>Caa	p.E647Q	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E647Q|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E253Q	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	647																	CAAAGCAAATGAAGTTTTAGA	0.373000													5	31					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724048	49724048	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:49724048G>A	ENST00000551245.1	+	13	1531	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	TROAP_ENST00000257909.3_Missense_Mutation_p.E474K|TROAP_ENST00000547923.1_Missense_Mutation_p.E182K			Q12815	TROAP_HUMAN	trophinin associated protein	474					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCTGCTGACTGAGATTTCTAG	0.522000													32	92					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107730	22107730	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:22107730C>A	ENST00000397802.4	+	7	1279	c.1064C>A	c.(1063-1065)tCc>tAc	p.S355Y	POLR3D_ENST00000306433.4_Missense_Mutation_p.S355Y			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	355					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACTGCCTGCTCCTTCCTGCAG	0.562000													9	25					0.000442599	0.000453552	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155324285	155324285	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:155324285C>T	ENST00000368346.3	-	16	7846	c.7207G>A	c.(7207-7209)Gat>Aat	p.D2403N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2398N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2403					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCCCATCATCTCGGCAGATC	0.413000													40	131					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14693130	14693130	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:14693130C>T	ENST00000284274.4	+	7	1110	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	344										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					ACATCCCCGTCAGAGTGTGTG	0.577000													3	16					0	0	1	0	0
SNAPIN	23557	broad.mit.edu	37	1	153631344	153631344	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:153631344C>G	ENST00000368685.5	+	1	215	c.125C>G	c.(124-126)tCt>tGt	p.S42C	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	42					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCTCGACTCTCACGTACAC	0.682000													3	14					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21006387	21006387	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:21006387C>G	ENST00000382812.1	-	6	649	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	CRYL1_ENST00000298248.7_Missense_Mutation_p.E163Q|CRYL1_ENST00000480748.1_5'UTR			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	163					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGGGCCGTCTCCGGGTGGGGG	0.587000													11	17					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101377760	101377760	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:101377760C>T	ENST00000370112.4	+	5	664	c.477C>T	c.(475-477)ttC>ttT	p.F159F	SLC30A7_ENST00000357650.4_Silent_p.F159F	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	159					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TATTTGTTTTCAAACATGGAG	0.383000													20	104					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103220437	103220437	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:103220437C>T	ENST00000251810.3	-	9	1223	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	RRM2B_ENST00000519962.1_Missense_Mutation_p.R42Q|RRM2B_ENST00000395912.2_Missense_Mutation_p.R275Q|RRM2B_ENST00000519317.1_Missense_Mutation_p.R115Q	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	327					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			CTCTGAAACTCGTTTCTCAAA	0.308000								Modulation of nucleotide pools					20	89					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476164	35476164	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:35476164G>A	ENST00000357182.4	-	10	1603	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	ZMYM6_ENST00000373340.2_Missense_Mutation_p.S459F|ZMYM6_ENST00000487874.1_Missense_Mutation_p.S459F|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	459					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTATTCATCAGAGCAATTCTT	0.363000													18	40					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2124383	2124383	+	Silent	SNP	C	C	T	rs137854140		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:2124383C>T	ENST00000219476.3	+	22	3168	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	TSC2_ENST00000382538.6_Silent_p.F797F|TSC2_ENST00000401874.2_Silent_p.F846F|TSC2_ENST00000353929.4_Silent_p.F846F|TSC2_ENST00000439673.2_Silent_p.F809F|TSC2_ENST00000568454.1_Silent_p.F857F|TSC2_ENST00000350773.4_Silent_p.F846F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	846					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCTGGAGTTCCTGTCCAGTG	0.617000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	8					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47772834	47772834	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:47772834C>G	ENST00000263773.5	-	5	658	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	216	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCGCCCATCTCAATTCCGACT	0.378000													18	31					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29813558	29813558	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:29813558G>A	ENST00000375398.2	-	16	2878	c.2429C>T	c.(2428-2430)tCc>tTc	p.S810F	SVIL_ENST00000355867.4_Missense_Mutation_p.S810F|SVIL_ENST00000375400.3_Missense_Mutation_p.S384F			O95425	SVIL_HUMAN	supervillin	810					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TAGAGTGGAGGAATCAGGTTC	0.468000													25	111					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48866215	48866215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:48866215G>T	ENST00000314191.2	-	7	742	c.686C>A	c.(685-687)tCa>tAa	p.S229*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S229*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	229					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCACAGAAGTGAGGACAACCC	0.398000								Non-homologous end-joining					9	13					4.68919e-08	4.97167e-08	1	1	0
SMU1	55234	broad.mit.edu	37	9	33053286	33053286	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:33053286G>C	ENST00000397149.3	-	10	1175	c.1125C>G	c.(1123-1125)atC>atG	p.I375M	SMU1_ENST00000536631.1_Missense_Mutation_p.I214M	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	375						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TCATATTCCAGATCTACCACA	0.318000													7	52					0	0	1	0	0
PITHD1	57095	broad.mit.edu	37	1	24112804	24112804	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:24112804G>A	ENST00000246151.4	+	5	536		c.e5-1		PITHD1_ENST00000374524.1_Splice_Site	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TCATCCTCTAGAATTTCTCGT	0.373000													12	14					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20174248	20174248	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:20174248C>T	ENST00000345530.3	-	7	832	c.717G>A	c.(715-717)atG>atA	p.M239I	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.M239I	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	239										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCATGTCTCATTATTTGGC	0.363000													6	32					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868682	37868682	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:37868682C>T	ENST00000406381.2	+	11	1549	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	ERBB2_ENST00000584601.1_Silent_p.L347L|ERBB2_ENST00000269571.5_Silent_p.L377L|ERBB2_ENST00000541774.1_Silent_p.L362L|ERBB2_ENST00000445658.2_Silent_p.L101L|ERBB2_ENST00000540042.1_Silent_p.L347L|ERBB2_ENST00000578199.1_Silent_p.L347L|ERBB2_ENST00000540147.1_Silent_p.L347L|ERBB2_ENST00000584450.1_Silent_p.L377L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	377					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCTGGCATTTCTGCCGGAGAG	0.557000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			4	13					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556380	44556380	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:44556380C>G	ENST00000289547.4	-	17	3577	c.3522G>C	c.(3520-3522)atG>atC	p.M1174I	NPC1L1_ENST00000546276.1_Missense_Mutation_p.M1101I|NPC1L1_ENST00000381160.3_Missense_Mutation_p.M1147I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1174					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACGAGGATCATGACAATGG	0.602000													6	21					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183435476	183435476	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:183435476C>G	ENST00000305135.5	+	3	333	c.138C>G	c.(136-138)atC>atG	p.I46M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	46					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGACTATTATCAAAGAACAGT	0.333000													22	68					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34634933	34634933	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:34634933C>G	ENST00000404220.3	+	9	1237	c.908C>G	c.(907-909)tCt>tGt	p.S303C	IFNAR2_ENST00000382264.3_Missense_Mutation_p.S303C|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000413881.1_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	gcactacagtctgaaactcct	0.438000													4	6					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39680234	39680234	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:39680234C>T	ENST00000361566.3	-	6	1024	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCAGTGTGTCTTCCAAGGCA	0.627000													16	20					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31106440	31106440	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:31106440G>A	ENST00000259881.9	+	5	340	c.51G>A	c.(49-51)caG>caA	p.Q17Q	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000547221.1_5'UTR|PSORS1C1_ENST00000481450.2_Intron	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	17										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CAGGCACACAGACCCCAGCTT	0.572000													14	125					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181138	79181138	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:79181138C>A	ENST00000554719.1	+	5	1072	c.581C>A	c.(580-582)gCc>gAc	p.A194D	NRXN3_ENST00000335750.5_Missense_Mutation_p.A194D	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCATTCACCGCCAGTGGGGAG	0.567000													32	77					3.11337e-16	3.3929e-16	1	1	0
CTDSPL2	51496	broad.mit.edu	37	15	44776470	44776470	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:44776470G>T	ENST00000260327.4	+	3	798	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D79Y|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D79Y|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D79Y	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	79							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACGTGATATAGATAACAATTT	0.348000													10	30					1.58986e-06	1.66557e-06	1	1	0
SEC24C	9632	broad.mit.edu	37	10	75525207	75525207	+	Splice_Site	SNP	A	A	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:75525207A>C	ENST00000339365.2	+	10	1389		c.e10-1		SEC24C_ENST00000345254.4_Splice_Site|SEC24C_ENST00000546025.1_Splice_Site|SEC24C_ENST00000411652.2_Splice_Site|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTTGCGCCTTAGGCTTCACCG	0.532000													28	13					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681428	3681428	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:3681428G>A	ENST00000250693.1	+	3	780	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	227					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTGCCTTGGGGCCCCTATCAA	0.597000													10	19					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216211607	216211607	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:216211607G>A	ENST00000435675.1	+	13	1834	c.1443G>A	c.(1441-1443)gtG>gtA	p.V481V	ATIC_ENST00000236959.9_Silent_p.V482V|ATIC_ENST00000540518.1_Silent_p.V423V			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	482					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AAACAGGAGTGAAGAGAGCAG	0.453000			T	ALK	ALCL								4	29					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89804929	89804929	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:89804929C>T	ENST00000310775.7	+	5	488	c.402C>T	c.(400-402)ctC>ctT	p.L134L	FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Silent_p.L134L|FANCI_ENST00000567996.1_Silent_p.L134L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	134					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTATCATTCTCACTGCCCTGG	0.388000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				37	78					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47566536	47566536	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:47566536G>A	ENST00000285039.7	-	3	586	c.287C>T	c.(286-288)tCc>tTc	p.S96F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	96	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATATGGTTGGACTCCAGGAA	0.463000													27	59					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432734	180432734	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:180432734C>T	ENST00000342868.6	+	8	1447	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	421	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTCCTTCTTCAATACAAATG	0.483000													15	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574561	179574561	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:179574561G>A	ENST00000589042.1	-	99	28709	c.28485C>T	c.(28483-28485)ttC>ttT	p.F9495F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.F9178F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F8251F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9178							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)			GTCTTTTAGTGAAACTTGGTG	0.398000													11	44					0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124458996	124458996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:124458996G>T	ENST00000232607.2	+	4	1214	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000536109.1_Nonsense_Mutation_p.E278*|UMPS_ENST00000538242.1_Nonsense_Mutation_p.E192*	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	370	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		CCTTATTGCGGAAATGAGCTC	0.607000													23	103					1.1804e-14	1.27846e-14	1	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861210	67861210	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:67861210G>A	ENST00000388833.3	+	14	1938	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E575K|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E506K	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	521					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGAGCTGATGGAGGCAGGGGG	0.597000													5	15					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113285630	113285630	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:113285630G>A	ENST00000389385.4	+	5	710	c.213G>A	c.(211-213)atG>atA	p.M71I	RPH3A_ENST00000415485.3_Missense_Mutation_p.M71I|RPH3A_ENST00000420983.2_Missense_Mutation_p.M71I|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000551052.1_Missense_Mutation_p.M67I|RPH3A_ENST00000543106.2_Missense_Mutation_p.M71I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	71	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGAAGAGATGGAGCAGGAGC	0.557000													13	7					0	0	1	0	0
TMEM150A	129303	broad.mit.edu	37	2	85828160	85828160	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:85828160C>T	ENST00000409668.1	-	3	651	c.184G>A	c.(184-186)Gat>Aat	p.D62N	TMEM150A_ENST00000306353.3_Silent_p.T31T|TMEM150A_ENST00000334462.5_Missense_Mutation_p.D62N			Q86TG1	T150A_HUMAN	transmembrane protein 150A	62						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGGGGGACATCGTCCAGGGTG	0.622000													3	17					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39441023	39441023	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:39441023G>C	ENST00000308521.5	+	3	606	c.249G>C	c.(247-249)aaG>aaC	p.K83N	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	84					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CTGCTTACAAGTGTTTCCAGA	0.587000													14	24					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67243771	67243771	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:67243771G>A	ENST00000392676.3	-	39	4900	c.4836C>T	c.(4834-4836)ctC>ctT	p.L1612L	ABCA5_ENST00000588877.1_Silent_p.L1612L|ABCA5_ENST00000392677.2_Silent_p.L1613L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1612					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTTCTTTAGTGAGTTCTACAA	0.338000													8	45					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897446	11897446	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:11897446G>C	ENST00000346436.6	+	20	2237	c.2185G>C	c.(2185-2187)Gac>Cac	p.D729H	CLCN6_ENST00000376496.3_Missense_Mutation_p.D729H|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.D707H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	729					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAAGTGAAGACTGGACCAT	0.567000													23	58					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318702	79318702	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:79318702G>C	ENST00000428286.1	-	9	7950	c.6750C>G	c.(6748-6750)ctC>ctG	p.L2250L	PRUNE2_ENST00000376718.3_Silent_p.L2609L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2609					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTCTGCAGAGAGACCTTTTC	0.453000													5	27					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170038801	170038801	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:170038801C>T	ENST00000284637.9	-	9	1991	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	550						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACTGGGACTCCCAGCCACGC	0.582000													8	33					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61058306	61058306	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:61058306C>T	ENST00000238497.5	-	11	1440	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	413					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGCAACATATCCGACTGTCAG	0.333000													6	19					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41941786	41941786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:41941786C>G	ENST00000379406.3	+	14	2075	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	584					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GAAATAAACTCAGGTAACTGA	0.299000													7	6					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241287	3241287	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:3241287C>G	ENST00000217939.6	-	5	2593	c.2439G>C	c.(2437-2439)ttG>ttC	p.L813F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	813						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCTAGACTCAAGGATGGAG	0.498000													19	6					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331376	133331376	+	Silent	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:133331376G>T	ENST00000539605.1	-	1	7023	c.339C>A	c.(337-339)acC>acA	p.T113T	ANKLE2_ENST00000357997.5_Silent_p.T175T|ANKLE2_ENST00000337516.5_Silent_p.T175T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	175	LEM.					cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCACCGAGCAGGTCTTGGATG	0.552000													15	31					6.31663e-08	6.66702e-08	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	174814798	174814798	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:174814798C>G	ENST00000454872.1	+	2	390	c.262C>G	c.(262-264)Caa>Gaa	p.Q88E	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	88					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATTCCATTCAACCAGCAAC	0.448000													12	28					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863503	52863503	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:52863503C>G	ENST00000252250.6	-	7	1422	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	459	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATCTCCACATCCAGGGCCAGC	0.597000													23	65					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33231817	33231817	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:33231817C>T	ENST00000445902.2	-	15	1806	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.E405K|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	530					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATGGTCCGTTCATTAGGAATT	0.557000													31	167					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10672474	10672474	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:10672474C>T	ENST00000312962.6	-	5	468	c.449G>A	c.(448-450)aGa>aAa	p.R150K	KRI1_ENST00000361821.5_Missense_Mutation_p.R146K|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	150	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCTGGAGTCTGTGATTGGA	0.572000													32	24					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86270197	86270197	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:86270197C>T	ENST00000263857.6	-	23	3635	c.3257G>A	c.(3256-3258)aGa>aAa	p.R1086K	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1086K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1086					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAAGGCGCCTCTTCTCAGCAG	0.493000													26	98					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6065827	6065827	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:6065827C>T	ENST00000217289.4	-	12	2267	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Silent_p.L236L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	493	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTTCATCCTCAGAAATGAAA	0.488000													23	43					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1589480	1589480	+	RNA	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:1589480C>T	ENST00000436493.2	-	0	398																											GACTTTATCTCCTAAAACAAA	0.343000													13	45					0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192682	102192682	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:102192682G>A	ENST00000218249.5	+	1	483	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	146					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GGCCTACGCCGAGCGCCTGGG	0.587000													37	8					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654087	46654087	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:46654087C>T	ENST00000253255.5	-	1	5132	c.5133G>A	c.(5131-5133)ctG>ctA	p.L1711L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1711					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAATGTAACTCAGAAACAGGA	0.403000													15	46					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216454	227216454	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:227216454G>C	ENST00000366769.3	-	29	5522	c.4231C>G	c.(4231-4233)Ctg>Gtg	p.L1411V	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L1383V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L1446V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L1391V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L1330V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L1411V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L1424V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1424	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAACACAGCAGATATTCTTTA	0.418000													14	59					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832326	39832326	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:39832326G>C	ENST00000309060.3	-	4	1646	c.1231C>G	c.(1231-1233)Cca>Gca	p.P411A	ZHX3_ENST00000540170.1_Missense_Mutation_p.P411A|ZHX3_ENST00000560361.1_Missense_Mutation_p.P411A|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.P411A|ZHX3_ENST00000559234.1_Missense_Mutation_p.P411A|ZHX3_ENST00000432768.2_Missense_Mutation_p.P411A			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	411	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACGTGACCTGGAAGAGCGGCC	0.567000													7	52					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335099	192335099	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:192335099G>C	ENST00000417209.2	+	5	478	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	102	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GAATATTGCTGAACCAACACT	0.343000													11	65					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52942007	52942007	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:52942007C>T	ENST00000267119.5	-	5	976	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	303	Coil 2.|Rod.						structural molecule activity	p.E303K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTGCGGACTTCGTCAATGATG	0.567000													8	31					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30779606	30779606	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:30779606G>A	ENST00000324685.6	+	13	2169	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K	RNF40_ENST00000402121.3_Silent_p.K270K|RNF40_ENST00000357890.5_Silent_p.K478K|RNF40_ENST00000563683.1_Silent_p.K538K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	578					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTTCAGTGAAGAAGGAGGAGC	0.632000													8	13					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6804656	6804656	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:6804656C>T	ENST00000534837.1	-	5	996	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	PIANP_ENST00000540656.1_Missense_Mutation_p.R256Q|PIANP_ENST00000320591.5_Missense_Mutation_p.R256Q	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		GGGTCCCCCTCGGGGCTCCTC	0.682000													7	21					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782948	140782948	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140782948C>T	ENST00000573521.1	+	1	429	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAATTAACGAAATCGCGG	0.473000													22	66					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53785424	53785424	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:53785424G>A	ENST00000370888.1	+	13	1558	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	427						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCACTGCAGAGAATCTGCCTC	0.478000													5	49					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76237612	76237612	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:76237612C>G	ENST00000529032.1	+	12	1928	c.1928C>G	c.(1927-1929)tCt>tGt	p.S643C	C11orf30_ENST00000524490.1_Missense_Mutation_p.S559C|C11orf30_ENST00000525919.1_Missense_Mutation_p.S644C|C11orf30_ENST00000525038.1_Missense_Mutation_p.S658C|C11orf30_ENST00000334736.3_Missense_Mutation_p.S643C|C11orf30_ENST00000343878.3_Missense_Mutation_p.S643C|C11orf30_ENST00000524767.1_Missense_Mutation_p.S658C|C11orf30_ENST00000533248.1_Missense_Mutation_p.S657C			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	643					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAATAGGTTCTACAGTTCAA	0.413000													12	36					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028916	62028916	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:62028916G>A	ENST00000578147.1	-	14	2797	c.2721C>T	c.(2719-2721)ctC>ctT	p.L907L	SCN4A_ENST00000435607.1_Silent_p.L907L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	907					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGTCCAGCTCGAGGCTGGATG	0.607000													8	30					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5170800	5170800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:5170800C>T	ENST00000460006.1	+	13	1565	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Nonsense_Mutation_p.Q300*|CDS2_ENST00000535100.1_Nonsense_Mutation_p.Q190*	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	420					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ACGGCCAGATCAGCAGCTCCA	0.552000													7	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179482768	179482768	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:179482768C>T	ENST00000589042.1	-	253	47534	c.47310G>A	c.(47308-47310)gtG>gtA	p.V15770V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.V14129V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.V13202V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.V6830V|TTN_ENST00000460472.2_Silent_p.V6705V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V6897V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14129	Fibronectin type-III 14.						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)			CAAATCGATTCACATCAGTGA	0.423000													5	29					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133984092	133984092	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:133984092G>C	ENST00000220616.4	+	33	6069	c.6029G>C	c.(6028-6030)gGa>gCa	p.G2010A	TG_ENST00000519543.1_Missense_Mutation_p.G164A|TG_ENST00000377869.1_Missense_Mutation_p.G1953A|TG_ENST00000542445.1_Missense_Mutation_p.G380A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2010					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTGGCTTTGGATTTCTAAAT	0.458000													4	54					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292802	33292802	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:33292802C>T	ENST00000280979.4	+	13	5953	c.5783C>T	c.(5782-5784)tCa>tTa	p.S1928L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1928					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGAGATTTCAGAGAGTGAG	0.373000													7	30					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112309357	112309357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:112309357C>T	ENST00000475700.1	+	3	3493	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	DDX20_ENST00000369702.4_Nonsense_Mutation_p.Q771*			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	771	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATACCTATCAGGATTATGA	0.448000													15	56					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952187	6952187	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:6952187G>A	ENST00000229264.3	+	5	555	c.150G>A	c.(148-150)acG>acA	p.T50T	GNB3_ENST00000435982.2_Silent_p.T50T	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGCGGCGGACGTTAAGGGGAC	0.607000													6	15					0	0	1	0	0
RPL17	6139	broad.mit.edu	37	18	47014925	47014925	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:47014925C>A	ENST00000418495.1	-	7	859	c.519G>T	c.(517-519)aaG>aaT	p.K173N	MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581373.1_Missense_Mutation_p.K135N|RPL17_ENST00000580210.1_Missense_Mutation_p.K163N|RPL17_ENST00000579408.1_Missense_Mutation_p.K173N|RPL17_ENST00000579248.1_Missense_Mutation_p.K173N|RPL17_ENST00000580261.1_Missense_Mutation_p.K173N|RPL17-C18orf32_ENST00000332968.6_Intron|RPL17-C18orf32_ENST00000584895.1_Intron	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1			ribosomal protein L17											endometrium(1)|kidney(1)|lung(3)	5						TCTTCAGTTTCTTCTGGGATA	0.348000													3	21					0.115264	0.115592	1	1	0
APOA1BP	128240	broad.mit.edu	37	1	156563749	156563749	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:156563749C>G	ENST00000368235.3	+	6	783	c.740C>G	c.(739-741)tCt>tGt	p.S247C	APOA1BP_ENST00000368234.3_Missense_Mutation_p.I228M	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	247	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAAAAAATCTGCAACCCAG	0.547000													20	78					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10792775	10792775	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:10792775C>T	ENST00000449870.1	+	12	1604	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	ILF3_ENST00000590261.1_Silent_p.A429A|ILF3_ENST00000588657.1_Silent_p.A429A|ILF3_ENST00000589998.1_Silent_p.A429A|ILF3_ENST00000420083.1_Silent_p.A429A|ILF3_ENST00000250241.8_Silent_p.A429A|ILF3_ENST00000592763.1_Silent_p.A429A|ILF3_ENST00000318511.3_Silent_p.A429A|ILF3_ENST00000407004.3_Silent_p.A429A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	429	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGTCCATGCCCCCATCTTTA	0.592000													30	12					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71011709	71011709	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:71011709C>T	ENST00000357250.6	-	2	241	c.83G>A	c.(82-84)cGc>cAc	p.R28H	COL9A1_ENST00000370496.3_Missense_Mutation_p.R28H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	28	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.R28H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTACTGGGGCGACGCTTGAC	0.458000													4	7					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538026	145538026	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:145538026C>G	ENST00000369304.3	+	22	2880	c.2705C>G	c.(2704-2706)tCt>tGt	p.S902C	ITGA10_ENST00000538811.1_Missense_Mutation_p.S771C|ITGA10_ENST00000539363.1_Missense_Mutation_p.S759C	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	902					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTGCTCCTCTCTCCTGAGC	0.522000													38	381					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995111	183995111	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:183995111G>A	ENST00000402825.3	+	4	689	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ECE2_ENST00000359140.4_Missense_Mutation_p.R83Q|ECE2_ENST00000357474.5_Missense_Mutation_p.R158Q|ECE2_ENST00000404464.3_Missense_Mutation_p.R112Q|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	230	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.R230Q(1)|p.R83Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCTGGACCGAGGGGTGAGC	0.602000													15	44					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49920021	49920021	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:49920021G>A	ENST00000553127.1	+	15	2134	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SPATS2_ENST00000552918.1_Missense_Mutation_p.E541K|SPATS2_ENST00000321898.6_Missense_Mutation_p.E541K			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	541						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCTCAGACTGAAGCCGTGAA	0.502000													10	14					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647674	130647674	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:130647674G>A	ENST00000539839.1	+	1	671	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	FZD10_ENST00000229030.4_Missense_Mutation_p.E63K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	160	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAACCAGCGCGAGGCAGCCAT	0.632000													9	33					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157525055	157525055	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:157525055G>C	ENST00000346085.5	+	19	4951	c.4950G>C	c.(4948-4950)gaG>gaC	p.E1650D	ARID1B_ENST00000367148.1_Missense_Mutation_p.E1690D|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1637D|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1632D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1637					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTTTGGCTGAGAGTACGTGGG	0.438000													6	255					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153998059	153998059	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:153998059C>G	ENST00000368559.3	-	30	4152	c.4081G>C	c.(4081-4083)Gaa>Caa	p.E1361Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1361Q|NUP210L_ENST00000368553.1_Missense_Mutation_p.E294Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1361						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAAAAGGTTCTATAGAAGTG	0.418000													40	147					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581193	7581193	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:7581193G>C	ENST00000379802.3	+	23	5111	c.4770G>C	c.(4768-4770)aaG>aaC	p.K1590N	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1590	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCCTGCAAGAGGAAGAAGC	0.562000													19	52					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47098670	47098670	+	Missense_Mutation	SNP	G	G	C	rs143083979		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:47098670G>C	ENST00000409792.3	-	15	6646	c.6604C>G	c.(6604-6606)Cct>Gct	p.P2202A		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2202	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGATCATAAGGAGCAGGAGAA	0.562000			"""N, F, S, Mis"""		clear cell renal carcinoma								10	29					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35236516	35236516	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:35236516G>A	ENST00000378495.3	+	4	425	c.203G>A	c.(202-204)gGa>gAa	p.G68E	UNC13B_ENST00000378496.4_Missense_Mutation_p.G68E|UNC13B_ENST00000396787.1_Missense_Mutation_p.G68E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	68	C2 1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAACAAAGGACTGATCTGG	0.473000													20	75					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456044	76456044	+	Splice_Site	SNP	A	A	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:76456044A>T	ENST00000396423.2	+	2	212		c.e2-1		HNF4G_ENST00000354370.1_Splice_Site	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTATTGACAGATAGTTCTG	0.398000													29	23					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943669	26943669	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:26943669C>T	ENST00000528896.2	-	35	6198	c.6124G>A	c.(6124-6126)Gat>Aat	p.D2042N	SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1899N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1899N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2042						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCCTCTTCATCACCAACTTCA	0.478000													30	64					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56143331	56143331	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:56143331C>T	ENST00000257868.5	+	3	926	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	297					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAAACGTTCCCGGCGGAACCT	0.552000													25	50					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101206369	101206369	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:101206369G>C	ENST00000388798.2	+	10	1160	c.969G>C	c.(967-969)ctG>ctC	p.L323L	SPAG1_ENST00000520508.1_Silent_p.L323L|SPAG1_ENST00000251809.3_Silent_p.L323L|SPAG1_ENST00000520643.1_Silent_p.L323L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	323					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)		AAAGAGATCTGAAAAATTCTG	0.328000													17	30					0	0	1	0	0
FGF4	2249	broad.mit.edu	37	11	69588123	69588123	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:69588123C>T	ENST00000168712.1	-	3	893	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	192					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGGCGACACTCGGTTCCCCTT	0.602000													17	30					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32498811	32498811	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:32498811G>T	ENST00000327300.7	+	4	814	c.647G>T	c.(646-648)gGa>gTa	p.G216V	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.G177V	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	216					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCAAAGGTGGAGACCCCAAA	0.478000													15	37					7.05477e-17	7.70009e-17	1	1	0
OR1G1	8390	broad.mit.edu	37	17	3030260	3030260	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:3030260C>T	ENST00000328890.2	-	1	615	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ATCACCAGCTCATTGGTGAAG	0.502000													12	64					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520308	176520308	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:176520308C>T	ENST00000292408.4	+	9	1472	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000502906.1_Silent_p.L409L|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	409					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGCAGAAGCTCTCCCGCTTCC	0.677000										TSP Lung(9;0.080)			7	22					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25318342	25318342	+	RNA	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:25318342G>A	ENST00000549804.2	+	0	817				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA																							CATCGGAACTGAGGTCCAGCA	0.438000													32	105					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101585654	101585654	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:101585654C>T	ENST00000375011.3	+	2	488	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	163	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTTGAGACATCCCCGGATATC	0.463000													22	48					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45745647	45745647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:45745647C>A	ENST00000357450.4	-	23	3456	c.3457G>T	c.(3457-3459)Gaa>Taa	p.E1153*	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1153	Ala/Asp-rich (DA-box).				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)		GCATCCACTTCATCTAAAACA	0.343000													5	13					0.0215528	0.0217692	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2119510	2119510	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:2119510G>A	ENST00000382203.1	+	26	3946	c.3737G>A	c.(3736-3738)cGa>cAa	p.R1246Q	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1246Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1246Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1246Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1246					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATTGCTCGACGAGAAGAAGAA	0.413000													15	32					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178682621	178682621	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:178682621C>T	ENST00000286063.6	-	8	1925	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G	PDE11A_ENST00000389683.3_Silent_p.G92G|PDE11A_ENST00000449286.2_Silent_p.G178G|PDE11A_ENST00000409504.1_Silent_p.G178G|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Silent_p.G286G	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CAAAAGGTTTCCCATCAAGTC	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	23					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90672537	90672537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:90672537C>T	ENST00000265138.3	-	3	677	c.411G>A	c.(409-411)tgG>tgA	p.W137*	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	137					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CGGCTTTCACCCAATAGCGCA	0.398000													20	48					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116946586	116946586	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:116946586G>A	ENST00000537345.1	+	22	3395	c.3032G>A	c.(3031-3033)cGa>cAa	p.R1011Q	ATP1A1_ENST00000295598.5_Missense_Mutation_p.R1011Q|ATP1A1_ENST00000369496.4_Missense_Mutation_p.R980Q	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1011					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATCATCAGGCGACGCCCTGGC	0.483000													10	68					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33288311	33288311	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:33288311C>T	ENST00000314144.5	-	1	217	c.102G>A	c.(100-102)ctG>ctA	p.L34L	CCT6B_ENST00000421975.3_Silent_p.L34L|CCT6B_ENST00000436961.3_Silent_p.L34L	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	34					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AGTTGGTCCGCAGCACATCCT	0.622000													4	23					0	0	1	0	0
FAM43B	163933	broad.mit.edu	37	1	20879509	20879509	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:20879509G>A	ENST00000332947.4	+	1	578	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	15										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GGTGGAGGACGAGGCCAAGTG	0.692000													7	16					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111274709	111274709	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:111274709C>G	ENST00000309957.2	+	2	261	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_Missense_Mutation_p.Q65E|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	83	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TGGAGGCTGTCAGGAGTAAGT	0.453000													11	23					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24881989	24881989	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:24881989G>C	ENST00000313367.2	-	13	1761	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	OSBPL3_ENST00000352860.1_Missense_Mutation_p.S406C|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S401C|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S370C|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S406C|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S370C|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S401C	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	437					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTTTCATTAGAAAGCTGATG	0.368000													28	115					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8999146	8999146	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:8999146C>T	ENST00000344836.4	-	14	1669	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	USP7_ENST00000381886.4_Missense_Mutation_p.E475K|USP7_ENST00000535863.1_Missense_Mutation_p.E392K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	491					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATTGCTTCCTCTTTAGTACAC	0.453000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	35					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25585828	25585828	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:25585828C>T	ENST00000269141.3	-	6	1255	c.832G>A	c.(832-834)Gag>Aag	p.E278K	CDH2_ENST00000399380.3_Missense_Mutation_p.E247K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	278	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGATCCCTCAGGAACTGTC	0.388000													9	37					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455797	37455797	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:37455797C>G	ENST00000234170.5	-	2	684	c.539G>C	c.(538-540)gGa>gCa	p.G180A		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	180					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCATTTGCCTCCAGGCCTAAG	0.398000													23	80					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110450	207110450	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:207110450G>A	ENST00000356495.4	-	4	1218	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	345	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTCATTGACGAAGAGTTGCC	0.582000													4	16					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883546	51883546	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:51883546C>G	ENST00000453097.2	+	19	2728	c.2511C>G	c.(2509-2511)atC>atG	p.I837M	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I864M	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	837					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTGCTCCATCATGGGCCTGC	0.532000													23	44					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44303926	44303926	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:44303926C>T	ENST00000262915.3	+	6	629	c.452C>T	c.(451-453)tCa>tTa	p.S151L	ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.S82L|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.S120L|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.S136L|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.S81L|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.S82L|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.S81L|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.S66L|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.S97L|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.S82L|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.S82L|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.S120L|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.S97L|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.S97L|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.S151L|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.S66L|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.S66L|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.S66L|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.S82L|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.S82L|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.S136L|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.S82L|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.S66L|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.S82L|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.S66L	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	82					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAAACTTTTCAGAGGGAGCT	0.517000													50	264					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27874136	27874136	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:27874136G>A	ENST00000374011.2	-	6	5459	c.4491C>T	c.(4489-4491)gcC>gcT	p.A1497A	AHDC1_ENST00000247087.5_Silent_p.A1497A	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1497							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGAGGCACGCGGCCTCCGTCC	0.697000													9	4					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136621	56136621	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:56136621G>A	ENST00000319441.4	+	2	318	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PCK1_ENST00000543666.1_5'UTR|PCK1_ENST00000535860.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	52					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTCTGAGGAGGAGAATGGGCG	0.592000													9	44					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576122	11576122	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:11576122G>A	ENST00000294484.6	+	6	1791	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	PTCHD2_ENST00000389575.3_Silent_p.Q551Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	551	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AAGACCCACAGCTGCGCATGA	0.602000													10	17					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6499337	6499337	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:6499337C>T	ENST00000228918.4	+	9	1187	c.861C>T	c.(859-861)ttC>ttT	p.F287F	LTBR_ENST00000541102.1_Silent_p.F144F|LTBR_ENST00000539925.1_Silent_p.F268F	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	287					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ATCCATACTTCCCTGACTTGG	0.587000													10	77					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110782428	110782428	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:110782428G>A	ENST00000282356.4	+	6	902	c.504G>A	c.(502-504)gaG>gaA	p.E168E	CAMK4_ENST00000512453.1_Silent_p.E168E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	168	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCAAACCAGAGAATCTTCTTT	0.363000													9	29					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90130108	90130108	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:90130108C>T	ENST00000449207.2	-	5	439	c.420G>A	c.(418-420)ctG>ctA	p.L140L	PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	140						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CACTTGTATTCAGTAAATTTG	0.408000													13	23					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949946	38949946	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:38949946C>T	ENST00000355481.4	+	19	2459	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	RYR1_ENST00000360985.3_Silent_p.F776F|RYR1_ENST00000359596.3_Silent_p.F776F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	776	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGGGCTCTTCTTCCCTGTTG	0.607000													4	11					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1423280	1423280	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:1423280C>T	ENST00000308647.7	+	12	1368	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	418							ATP binding|nucleoside-triphosphatase activity	p.R418W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCCTTCCTTCGGAAGCGAGC	0.627000													12	70					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578989	67578989	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:67578989C>G	ENST00000310421.4	-	1	463	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	69					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCGGTACACTCGATGCTGACA	0.622000													3	11					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78262520	78262520	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:78262520C>T	ENST00000582970.1	+	5	1042	c.899C>T	c.(898-900)cCa>cTa	p.P300L	RNF213_ENST00000319921.4_Missense_Mutation_p.P300L|RNF213_ENST00000508628.2_Missense_Mutation_p.P349L|RNF213_ENST00000456466.1_Missense_Mutation_p.P300L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	300										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAACAGCCACCAGCAACCACT	0.572000													15	68					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67434142	67434142	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:67434142G>T	ENST00000349015.3	-	4	492	c.54C>A	c.(52-54)ttC>ttA	p.F18L	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.F18L|ALDH3B2_ENST00000531881.1_5'UTR	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	18					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCTTCCAGATGAAGACCGAGT	0.627000													3	28					0.115264	0.115592	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128939864	128939864	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:128939864G>A	ENST00000375990.3	+	37	4575	c.4172G>A	c.(4171-4173)aGt>aAt	p.S1391N	UGGT1_ENST00000259253.6_Splice_Site_p.S1415N			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1415	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATCATATCAGGTACTGAAAA	0.423000													4	33					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:92459366G>C	ENST00000318445.6	+	2	538	c.324G>C	c.(322-324)ctG>ctC	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCCGCGCCTGATCGGCTGCG	0.682000													4	17					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114514630	114514630	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:114514630C>T	ENST00000369559.4	+	15	3359	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	HIPK1_ENST00000340480.4_Intron|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000426820.2_Intron|HIPK1_ENST00000369553.1_Intron|HIPK1_ENST00000406344.1_Intron|HIPK1_ENST00000369558.1_Intron|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369554.2_Intron	NM_152696.3	NP_689909.2	Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	0	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.F1066F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTACTTTCTGGAGAACCC	0.498000													5	37					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350196	134350196	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:134350196G>A	ENST00000275230.5	-	2	922	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	256						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATCTTTCAGGGAGGATTTGAT	0.408000													17	40					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31337500	31337500	+	Silent	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:31337500A>G	ENST00000397641.3	-	9	1152	c.744T>C	c.(742-744)taT>taC	p.Y248Y	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Silent_p.Y186Y			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGGATCAATATAGAGCACAG	0.592000													13	11					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067297	146067297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:146067297C>T	ENST00000528372.1	+	5	1045	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	ZNF7_ENST00000446747.2_Nonsense_Mutation_p.Q280*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.Q269*|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000529819.1_3'UTR|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.Q173*			P17097	ZNF7_HUMAN	zinc finger protein 7	269					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TAATCAGCATCAGAGAATCCA	0.478000													54	66					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44006242	44006242	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:44006242C>T	ENST00000372726.3	-	2	216	c.60G>A	c.(58-60)gaG>gaA	p.E20E	TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.E4E|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	20					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CCCGCAGTTTCTCATCTTGCA	0.542000													4	26					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208349	17208349	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:17208349G>A	ENST00000253692.7	-	21	3668	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	TBC1D5_ENST00000446818.2_Silent_p.I690I|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Silent_p.I668I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	668						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CCGCAATGGTGATCTGTTCGT	0.488000													8	55					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	15					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129127589	129127589	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:129127589G>C	ENST00000326639.6	+	18	2527	c.2316G>C	c.(2314-2316)ggG>ggC	p.G772G	LARP1B_ENST00000354456.3_Silent_p.G191G|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000264584.5_Silent_p.G713G	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	772							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ATAGGTATGGGTTAGAATGTC	0.294000													17	30					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													3	9					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75094382	75094382	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:75094382C>G	ENST00000220003.9	+	12	1857	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	CSK_ENST00000567571.1_Silent_p.L376L|CSK_ENST00000309470.9_Silent_p.L376L|CSK_ENST00000439220.2_Silent_p.L376L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	376	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GAATCCTTCTCTGGGAAATCT	0.547000													17	69					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22316834	22316834	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:22316834C>T	ENST00000398793.2	-	13	1926	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	TOP3B_ENST00000413067.2_Missense_Mutation_p.E227K|TOP3B_ENST00000357179.5_Missense_Mutation_p.E498K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	498					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	p.E498K(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTGATGAGCTCGGCCTCCGTC	0.642000													21	55					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289466	122289466	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:122289466C>T	ENST00000296161.4	+	4	2289	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	DTX3L_ENST00000383661.3_Silent_p.V188V	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	700					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TCTCAGATGTCATCACTTGGA	0.428000													18	47					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890404	2890404	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:2890404G>A	ENST00000380698.4	-	7	1213	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTTTATGGCGATGAGAACCT	0.537000													10	53					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33425582	33425582	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:33425582C>T	ENST00000484457.1	+	14	1144	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	FBXL2_ENST00000446237.3_Silent_p.C92C|FBXL2_ENST00000542085.1_Silent_p.C61C|FBXL2_ENST00000507198.1_Silent_p.C283C|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.C283C|FBXL2_ENST00000538181.1_Silent_p.C267C	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	351					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGGACAACTGCCTCCTCATCA	0.587000													23	31					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24892222	24892222	+	Silent	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:24892222G>T	ENST00000313367.2	-	11	1510	c.1059C>A	c.(1057-1059)atC>atA	p.I353I	OSBPL3_ENST00000352860.1_Silent_p.I322I|OSBPL3_ENST00000353930.1_Silent_p.I353I|OSBPL3_ENST00000409069.1_Silent_p.I322I|OSBPL3_ENST00000396431.1_Silent_p.I322I|OSBPL3_ENST00000431825.2_Silent_p.I322I|OSBPL3_ENST00000396429.1_Silent_p.I353I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	353					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCGCTGACATGATATTAAAAG	0.408000													9	27					0.000442599	0.000453552	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43415673	43415673	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:43415673C>G	ENST00000244533.3	+	16	4232	c.3873C>G	c.(3871-3873)ctC>ctG	p.L1291L	ABCC10_ENST00000372530.4_Silent_p.L1319L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1319	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCCCAGCTCAGGTCTGGGG	0.592000													7	11					0	0	1	0	0
WDR34	89891	broad.mit.edu	37	9	131403068	131403068	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:131403068G>A	ENST00000372715.2	-	2	397	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	113						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TCCACTCTCCGAAGAAAGGCT	0.607000													7	32					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255320	30255320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:30255320G>A	ENST00000303775.5	-	2	233	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	N6AMT1_ENST00000351429.3_Nonsense_Mutation_p.Q70*	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	70					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.Q70K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TACAAAGCCTGAGGGCCTATC	0.343000													16	32					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599686	161599686	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:161599686G>C	ENST00000294800.3	-	3	474	c.201C>G	c.(199-201)atC>atG	p.I67M	FCGR3B_ENST00000531221.1_Missense_Mutation_p.I103M|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.I67M|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	67	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGGCTTGAGATGAGGTTCT	0.552000													15	90					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336398	70336398	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:70336398C>T	ENST00000338508.4	-	30	2536	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.R250Q|SHANK2_ENST00000449116.2_Missense_Mutation_p.R247Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.R257Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R466Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R249Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R256Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	466					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTCTGCCTTCGCATCGTACC	0.562000													12	91					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74477934	74477934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:74477934C>T	ENST00000437994.2	+	14	2085	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	CD109_ENST00000422508.2_Nonsense_Mutation_p.Q475*|CD109_ENST00000287097.5_Nonsense_Mutation_p.Q552*	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	552						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATTCCTGTTCAGCTTGTTTT	0.269000													3	23					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518329	161518329	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:161518329G>C	ENST00000367969.3	-	3	492	c.309C>G	c.(307-309)atC>atG	p.I103M	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.I102M|FCGR3A_ENST00000436743.1_Missense_Mutation_p.I67M|FCGR3A_ENST00000540048.1_Missense_Mutation_p.I67M|RP11-25K21.6_ENST00000537821.2_RNA	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	67	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGGCTTGAGATGAGGCTCT	0.567000													10	210					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169816899	169816899	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:169816899T>A	ENST00000286031.6	+	20	2713	c.2013T>A	c.(2011-2013)gaT>gaA	p.D671E	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.D671E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	671										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAATGTTGGATTTTGTATCTT	0.338000													18	87					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48939096	48939096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:48939096G>T	ENST00000267163.4	+	9	1066	c.928G>T	c.(928-930)Gga>Tga	p.G310*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	310			G -> E (in RB; could be a polymorphism).		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)	AACATCTAATGGACTTCCAGA	0.279000		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)			5	6					0.00116845	0.00119215	1	1	0
LY75	4065	broad.mit.edu	37	2	160697359	160697359	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:160697359C>T	ENST00000263636.4	-	25	3415	c.3388G>A	c.(3388-3390)Gag>Aag	p.E1130K	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1130K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1130K|LY75_ENST00000554112.1_Missense_Mutation_p.E1130K|LY75_ENST00000553424.1_Missense_Mutation_p.E1130K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGACACTCCCTTTTAGCA	0.448000													12	97					0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082629	62082629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:62082629C>A	ENST00000412356.1	-	4	520	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	ICAM2_ENST00000578892.1_Intron|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Nonsense_Mutation_p.E56*|ICAM2_ENST00000418105.1_Nonsense_Mutation_p.E56*|ICAM2_ENST00000449662.2_Nonsense_Mutation_p.E56*|ICAM2_ENST00000579687.1_Nonsense_Mutation_p.E56*	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	56	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CCACCCACTTCAGGCTGGTTA	0.532000													19	30					0.000132079	0.000136339	1	1	0
OR52A5	390054	broad.mit.edu	37	11	5153123	5153123	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:5153123G>A	ENST00000307388.1	-	1	749	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACTGTAGGAAGACACAAATGT	0.413000													14	24					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18903391	18903391	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:18903391C>T	ENST00000377304.4	-	5	991	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	191	PUA.						methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGACATACTTCAGTTCAGGTA	0.338000													12	60					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8190893	8190893	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:8190893C>T	ENST00000600128.1	-	22	3028	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	FBN3_ENST00000601739.1_Missense_Mutation_p.E872K|FBN3_ENST00000270509.2_Missense_Mutation_p.E872K			Q75N90	FBN3_HUMAN	fibrillin 3	872	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACTCACACTCGTTCACATCT	0.622000													3	26					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20781506	20781506	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:20781506C>A	ENST00000289416.5	+	2	625	c.150C>A	c.(148-150)ttC>ttA	p.F50L	ACSM3_ENST00000440284.2_Missense_Mutation_p.F50L|ACSM3_ENST00000450120.2_Missense_Mutation_p.F5L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	50					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AACAGGACTTCAAACTGGGGA	0.443000													7	54					2.0095e-06	2.10206e-06	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161536266	161536266	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:161536266C>T	ENST00000392142.4	+	26	4886	c.4738C>T	c.(4738-4740)Cac>Tac	p.H1580Y	MAP3K4_ENST00000348824.7_Missense_Mutation_p.H1526Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H1576Y|MAP3K4_ENST00000366919.2_Missense_Mutation_p.H1530Y	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1580	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTTCCTTTCTCACTGCCTTGA	0.453000													21	28					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122581	140122581	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:140122581G>A	ENST00000458420.3	+	3	533	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	115	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATTGACTGTGAGTTGCAGAA	0.562000										HNSCC(16;0.037)			25	84					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29577037	29577037	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:29577037G>A	ENST00000377034.4	-	15	2163	c.1828C>T	c.(1828-1830)Ctg>Ttg	p.L610L	GABBR1_ENST00000355973.3_Silent_p.L493L|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Silent_p.L493L|GABBR1_ENST00000377016.4_Silent_p.L548L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	610					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TTAAAGGACAGACAGACAACA	0.478000													5	32					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157425438	157425438	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:157425438G>C	ENST00000310454.6	+	10	1639	c.1267G>C	c.(1267-1269)Gat>Cat	p.D423H	GPD2_ENST00000409674.1_Missense_Mutation_p.D423H|GPD2_ENST00000438166.2_Missense_Mutation_p.D423H|GPD2_ENST00000409125.4_Missense_Mutation_p.D196H|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	423					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TCATGTTGTTGATATCAGTGA	0.408000													55	77					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695039	48695039	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:48695039C>T	ENST00000236495.5	+	5	537	c.487C>T	c.(487-489)Ccg>Tcg	p.P163S	SLC5A9_ENST00000533824.1_Missense_Mutation_p.P159S|SLC5A9_ENST00000420136.2_Missense_Mutation_p.P131S|SLC5A9_ENST00000438567.2_Missense_Mutation_p.P138S|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	138						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GGTCACAATGCCGCAGTATCT	0.552000													16	53					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23758839	23758839	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:23758839G>C	ENST00000308268.6	+	5	630	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	PSMA8_ENST00000415576.2_Missense_Mutation_p.E175Q|PSMA8_ENST00000343848.6_Missense_Mutation_p.E137Q	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	181					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AGAATTTCTAGAAAAGAATTA	0.318000													6	22					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47200713	47200713	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:47200713G>A	ENST00000539589.1	-	8	1239	c.897C>T	c.(895-897)ttC>ttT	p.F299F	PACSIN3_ENST00000298838.6_Silent_p.F299F	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	299					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACATGCCTCGAACTGTGGCC	0.627000													32	59					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47158126	47158126	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:47158126G>C	ENST00000409792.3	-	4	4615	c.4573C>G	c.(4573-4575)Ctc>Gtc	p.L1525V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1525	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAATCATGAGAAGACGATTA	0.328000			"""N, F, S, Mis"""		clear cell renal carcinoma								19	80					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56480341	56480341	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:56480341G>A	ENST00000267101.3	+	4	888	c.448G>A	c.(448-450)Gag>Aag	p.E150K	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.E91K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	150					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E150K(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTTTATATTGAGAAGAACGA	0.507000													42	45					0	0	1	0	0
HSD17B11	51170	broad.mit.edu	37	4	88295955	88295955	+	Missense_Mutation	SNP	T	T	C	rs149908496	byFrequency	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:88295955T>C	ENST00000358290.4	-	3	661	c.346A>G	c.(346-348)Att>Gtt	p.I116V	HSD17B11_ENST00000507286.1_Intron	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	116					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTTACTAAAATACTAACATCT	0.299000													27	94					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30419563	30419563	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr21:30419563G>C	ENST00000334352.4	+	15	2163	c.1932G>C	c.(1930-1932)gaG>gaC	p.E644D	USP16_ENST00000535828.1_Missense_Mutation_p.E273D|USP16_ENST00000399976.2_Missense_Mutation_p.E644D|USP16_ENST00000399975.3_Missense_Mutation_p.E643D	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	644					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCCGTAATGAGAAACTTCGAG	0.378000													14	49					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718922	50718922	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:50718922G>A	ENST00000449103.1	-	25	4311	c.4171C>T	c.(4171-4173)Cgc>Tgc	p.R1391C	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1391C			O15031	PLXB2_HUMAN	plexin B2	1391					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCACCTGCGCAGCATCAGC	0.697000													8	37					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499899	75499899	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:75499899G>A	ENST00000360639.2	+	2	1830	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	C15orf39_ENST00000567617.1_Missense_Mutation_p.D504N|C15orf39_ENST00000394987.4_Missense_Mutation_p.D504N			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	504										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTGTCATTGACAATGTCTT	0.632000													8	31					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	652774	652774	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:652774G>A	ENST00000255622.6	+	11	1478	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	PDE6B_ENST00000496514.1_Missense_Mutation_p.D479N|PDE6B_ENST00000429163.2_Missense_Mutation_p.D200N	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	479					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAGCCTGCTGACTGCGATGA	0.612000													6	19					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131122671	131122671	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:131122671G>A	ENST00000300456.4	+	13	1950	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	SLC27A4_ENST00000372870.1_Silent_p.V205V	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CGGCTATTGTGAAAGACCCGC	0.592000													4	71					0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55218001	55218001	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:55218001G>C	ENST00000262093.5	-	11	1366	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	FECH_ENST00000382873.3_Silent_p.L411L	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	405					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GATTGACACAGAGCGGACAGC	0.572000													7	17					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110774872	110774872	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:110774872C>A	ENST00000369787.3	+	4	1876	c.1849C>A	c.(1849-1851)Cag>Aag	p.Q617K	KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	617					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTCCCCTTCAGCATTCACC	0.557000													3	15					6.4e-05	6.63564e-05	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6513461	6513461	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:6513461C>T	ENST00000361413.3	-	9	1923	c.1565G>A	c.(1564-1566)aGa>aAa	p.R522K	KIAA0753_ENST00000572370.1_Missense_Mutation_p.R223K|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R223K|KIAA0753_ENST00000589033.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	522						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTGTCTACCTCTTTCAGCTTT	0.443000													16	80					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482330	233482330	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:233482330C>G	ENST00000366624.3	+	2	1209	c.948C>G	c.(946-948)atC>atG	p.I316M	MLK4_ENST00000366623.3_Missense_Mutation_p.I316M	NM_032435.2	NP_115811.2																					CCGAAGTGATCAAGTCTTCCT	0.473000													4	28					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2744229	2744229	+	Missense_Mutation	SNP	C	C	T	rs145021348		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:2744229C>T	ENST00000510267.1	-	6	1151	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	TNIP2_ENST00000315423.7_Missense_Mutation_p.A349T|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.A266T	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	349						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCCGGCCGGCGTCTGGCTCT	0.587000													7	23					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152779954	152779954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:152779954C>A	ENST00000367255.5	-	22	3107	c.2506G>T	c.(2506-2508)Gaa>Taa	p.E836*	SYNE1_ENST00000367253.4_Nonsense_Mutation_p.E836*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E843*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E843*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E843*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E836*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.E836*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.E826*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.E403*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	836					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGATAATTTCATTGATTTTC	0.398000										HNSCC(10;0.0054)			12	47					7.03913e-09	7.48572e-09	1	1	0
QDPR	5860	broad.mit.edu	37	4	17503419	17503419	+	Missense_Mutation	SNP	T	T	C	rs148369556		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:17503419T>C	ENST00000281243.5	-	4	538	c.359A>G	c.(358-360)cAt>cGt	p.H120R	QDPR_ENST00000508623.1_Missense_Mutation_p.H120R|QDPR_ENST00000513615.1_Missense_Mutation_p.H120R|QDPR_ENST00000428702.2_Missense_Mutation_p.H89R	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	120					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GGTAGCCAGATGGCTGGAGAT	0.522000													10	19					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932341	23932341	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:23932341C>T	ENST00000331837.4	-	1	109	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	8					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAGGGTCGCTCAGATCCTTAC	0.657000									Prader-Willi syndrome				4	13					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66612826	66612826	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:66612826C>T	ENST00000379500.2	+	4	850	c.783C>T	c.(781-783)gtC>gtT	p.V261V	CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Silent_p.V45V|CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Silent_p.V90V|CMTM1_ENST00000336328.6_Silent_p.V91V|CMTM1_ENST00000457188.2_Silent_p.V144V|CMTM1_ENST00000332695.7_Silent_p.V97V|CMTM1_ENST00000533953.1_Silent_p.V213V	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	144					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TCCTGGGAGTCGAAGTTGAAA	0.602000													18	46					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996617	10996617	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:10996617C>G	ENST00000324288.8	+	8	864	c.731C>G	c.(730-732)tCt>tGt	p.S244C	CIITA_ENST00000381835.5_Missense_Mutation_p.S195C|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	244					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGGCAAATCTCTGAGGCTGGA	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								10	40					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147693	33147693	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:33147693C>T	ENST00000360668.3	+	4	1118	c.357C>T	c.(355-357)ttC>ttT	p.F119F	MAP1LC3A_ENST00000397709.1_Silent_p.F119F|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Silent_p.F123F			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	119					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGGAAACCTTCGGCTTCTGAG	0.627000													9	24					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505428	228505428	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:228505428C>T	ENST00000570156.2	+	63	16770	c.16696C>T	c.(16696-16698)Cac>Tac	p.H5566Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.H4609Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.H2243Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.H1728Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.H4609Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4609					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAACCGGTTCACCTGCCCCA	0.677000													20	55					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236146	140236146	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140236146C>G	ENST00000307360.5	+	1	513	c.513C>G	c.(511-513)ctC>ctG	p.L171L	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.L171L|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACAAACTCAGTCCAAATG	0.413000													38	46					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457921	45457921	+	RNA	SNP	G	G	A	rs3803173	by1000genomes	TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:45457921G>A	ENST00000548424.1	+	0	448																											CTTTGCTGACGAGGGGTACAG	0.443000													10	25					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28420612	28420612	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:28420612G>A	ENST00000337532.5	-	7	600	c.324C>T	c.(322-324)ctC>ctT	p.L108L	MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000375732.1_Silent_p.L108L|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Silent_p.L108L|MPP7_ENST00000540098.1_Silent_p.L108L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	108	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CATGTACAGAGAGCAAAGCCT	0.313000													14	34					0	0	1	0	0
C20orf144	128864	broad.mit.edu	37	20	32251447	32251447	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:32251447G>C	ENST00000375222.3	+	2	298	c.236G>C	c.(235-237)aGa>aCa	p.R79T	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	79										lung(1)	1						GCGGCACCCAGATTGCGCGGA	0.731000													3	12					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482251	54482251	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:54482251G>A	ENST00000317802.7	-	1	1158	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	346					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						AGCTGCAGATGACATGTCGGT	0.507000													15	38					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83476289	83476289	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:83476289C>T	ENST00000296591.5	-	4	695	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	EDIL3_ENST00000380138.3_Missense_Mutation_p.E83K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	93	EGF-like 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CGGTATGCTTCACTTATTTCA	0.388000													9	17					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124783274	124783274	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:124783274C>G	ENST00000431078.1	+	1	411	c.47C>G	c.(46-48)tCt>tGt	p.S16C	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	16					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGCTGTTCTCTGGCTTGTGG	0.517000													8	53					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182575712	182575712	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:182575712G>A	ENST00000323116.5	+	11	1158	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	300					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTTATATCTGAAGCTGTCAT	0.299000													16	36					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677964	38677964	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:38677964C>G	ENST00000379931.3	+	3	1581	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C	TACC1_ENST00000443286.2_Missense_Mutation_p.S417C|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.S206C|TACC1_ENST00000519416.1_Missense_Mutation_p.S206C|TACC1_ENST00000520973.1_Missense_Mutation_p.S206C|TACC1_ENST00000520340.1_Missense_Mutation_p.S365C|TACC1_ENST00000317827.4_Missense_Mutation_p.S401C|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.S356C|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	401	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GGGAGCCACTCTGTTCTGCAG	0.542000													22	32					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005596	118005596	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:118005596G>A	ENST00000310754.4	-	1	1140	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	318	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCTGAAGCCAGAGAGTAATTA	0.418000													25	102					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23309684	23309684	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:23309684T>C	ENST00000258733.4	+	9	1614	c.1319T>C	c.(1318-1320)cTg>cCg	p.L440P	GPNMB_ENST00000453162.2_Missense_Mutation_p.L394P|GPNMB_ENST00000539136.1_Missense_Mutation_p.L341P|GPNMB_ENST00000381990.2_Missense_Mutation_p.L452P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	452					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ATGTGTCTGCTGACTGTGAGA	0.547000													26	31					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871693	63871693	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:63871693C>G	ENST00000334025.2	+	3	751	c.425C>G	c.(424-426)tCc>tGc	p.S142C	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	142					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.S142F(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ATGCTAAAATCCATATGTCTG	0.428000													9	30					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42110219	42110219	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:42110219C>T	ENST00000457542.2	+	17	2203	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	MAPKBP1_ENST00000514566.1_Silent_p.I639I|MAPKBP1_ENST00000456763.2_Silent_p.I645I|MAPKBP1_ENST00000221214.6_Silent_p.I522I|MAPKBP1_ENST00000260357.7_Silent_p.I478I	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	645										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TATTTAACATCAGCAGTGGAA	0.522000													23	74					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35051238	35051238	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:35051238C>T	ENST00000360359.3	+	20	3090	c.2952C>T	c.(2950-2952)tcC>tcT	p.S984S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	984	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCATCCTGTCCATCACATACA	0.547000													15	68					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131172191	131172191	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:131172191C>G	ENST00000357668.1	-	11	956	c.929G>C	c.(928-930)gGa>gCa	p.G310A	ASAP1_ENST00000518721.1_Missense_Mutation_p.G310A			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	310					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCTGTATCCTCCTTGCCGGCT	0.443000													20	123					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11414244	11414244	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:11414244G>C	ENST00000259089.4	+	9	1442	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	BLK_ENST00000529894.1_Missense_Mutation_p.E213Q|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	284	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTTTCTGGGTGAGGCCAACGT	0.552000													7	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			3	19					0	0	1	0	0
UROD	7389	broad.mit.edu	37	1	45480676	45480676	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:45480676G>C	ENST00000246337.4	+	9	1059	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	314						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GTATGCATCTGAGGTAACAGC	0.537000									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	82					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47684517	47684517	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:47684517C>G	ENST00000455779.1	+	20	2024	c.1839C>G	c.(1837-1839)ctC>ctG	p.L613L	PHKB_ENST00000566044.1_Silent_p.L613L|PHKB_ENST00000323584.5_Silent_p.L620L|PHKB_ENST00000299167.8_Silent_p.L620L			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	620					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCCTTGTTCTCATCCGGGAAG	0.433000													6	26					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46919186	46919186	+	Silent	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:46919186A>G	ENST00000258947.3	+	2	218	c.117A>G	c.(115-117)acA>acG	p.T39T	CALCOCO2_ENST00000509507.1_Silent_p.T39T|CALCOCO2_ENST00000416445.2_Silent_p.T39T|CALCOCO2_ENST00000448105.2_Silent_p.T39T|CALCOCO2_ENST00000508679.1_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	39					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GGGACGTCACATGTCATTATA	0.453000													23	29					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435844	48435844	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:48435844G>A	ENST00000017003.2	+	10	2267	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	740					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCGCTGGGTGAGACCCGCTT	0.587000													6	25					0	0	1	0	0
UQCC1	55245	broad.mit.edu	37	20	33894539	33894539	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:33894539C>T	ENST00000374385.5	-	9	872	c.695G>A	c.(694-696)aGa>aAa	p.R232K	UQCC1_ENST00000407996.2_Missense_Mutation_p.R95K|UQCC1_ENST00000397556.3_Missense_Mutation_p.R133K|UQCC1_ENST00000542501.1_3'UTR|UQCC1_ENST00000359226.2_Missense_Mutation_p.R152K|UQCC1_ENST00000374380.2_Missense_Mutation_p.R164K|UQCC1_ENST00000349714.5_Missense_Mutation_p.R205K|UQCC1_ENST00000540457.1_Missense_Mutation_p.R77K|UQCC1_ENST00000374377.5_Missense_Mutation_p.R120K|UQCC1_ENST00000374384.2_Missense_Mutation_p.R206K	NM_018244.4	NP_060714.3			ubiquinol-cytochrome c reductase complex assembly factor 1	232																	GAAGAAGGTTCTCCAGAGGGC	0.537000											OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10554858	10554858	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:10554858G>C	ENST00000583535.1	-	5	563	c.476C>G	c.(475-477)tCt>tGt	p.S159C	MYH3_ENST00000226209.7_Missense_Mutation_p.S159C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	159	Myosin head-like.				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						GGCGTTGTCAGAGATGGAGAA	0.592000													29	145					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23078694	23078694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:23078694C>T	ENST00000428304.2	+	6	887	c.817C>T	c.(817-819)Cga>Tga	p.R273*	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	273					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TATGCTGGAGCGAATTCACTT	0.498000													10	39					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601610	13601610	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:13601610A>G	ENST00000040738.5	-	10	7049	c.6914T>C	c.(6913-6915)aTg>aCg	p.M2305T		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2305							DNA binding										AGCACCAATCATGACTGCTTC	0.537000													6	7					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57054678	57054678	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:57054678G>C	ENST00000436936.1	+	3	279	c.54G>C	c.(52-54)gtG>gtC	p.V18V	NLRC5_ENST00000262510.6_Silent_p.V18V|NLRC5_ENST00000308149.7_Silent_p.V18V|NLRC5_ENST00000539144.1_Silent_p.V18V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	18					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGTCTTGTGAGGCTGCTCA	0.582000													12	14					0	0	1	0	0
ELP5	23587	broad.mit.edu	37	17	7162032	7162032	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:7162032G>A	ENST00000574993.1	+	6	982	c.765G>A	c.(763-765)agG>agA	p.R255R	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Silent_p.R255R|ELP5_ENST00000396627.2_Intron|ELP5_ENST00000354429.2_Intron|ELP5_ENST00000396628.2_Intron					elongator acetyltransferase complex subunit 5																		CCAGAACAAGGAAATGTAGTT	0.532000													17	56					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42987097	42987097	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:42987097G>T	ENST00000326974.4	+	10	1270	c.1075G>T	c.(1075-1077)Gat>Tat	p.D359Y	KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225Y|KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300Y	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	359					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTTGCCTCATGATATCAGGTA	0.493000													22	137					6.21321e-17	6.79208e-17	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121563733	121563733	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:121563733G>T	ENST00000361976.2	+	10	1331	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	389	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GATTATTGGCGATGCTTACCT	0.378000													11	34					4.3838e-07	4.60626e-07	1	1	0
DNM1L	10059	broad.mit.edu	37	12	32884324	32884324	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:32884324C>T	ENST00000452533.2	+	11	1399	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	DNM1L_ENST00000358214.5_Missense_Mutation_p.S425L|DNM1L_ENST00000266481.6_Missense_Mutation_p.S412L|DNM1L_ENST00000381000.4_Missense_Mutation_p.S425L|DNM1L_ENST00000547312.1_Missense_Mutation_p.S412L|DNM1L_ENST00000553257.1_Missense_Mutation_p.S425L|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.S412L|DNM1L_ENST00000414834.2_Missense_Mutation_p.S209L	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	412	Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCTGAGGTTTCATTTGAGTTA	0.418000													44	86					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50589876	50589876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:50589876C>T	ENST00000360473.4	+	1	487	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	KCNRG_ENST00000312942.1_Nonsense_Mutation_p.Q83*|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000378182.3_3'UTR	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	83	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCTTAGGCTTCAGAGAGAGGC	0.388000													17	33					0	0	1	0	0
OARD1	221443	broad.mit.edu	37	6	41035112	41035112	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:41035112C>G	ENST00000479950.1	-	6	734	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	OARD1_ENST00000463088.1_Missense_Mutation_p.E141Q|OARD1_ENST00000464633.1_3'UTR|OARD1_ENST00000480585.1_3'UTR|OARD1_ENST00000468811.1_Missense_Mutation_p.E141Q|OARD1_ENST00000373154.2_3'UTR|OARD1_ENST00000482515.1_3'UTR|OARD1_ENST00000424266.2_Missense_Mutation_p.E141Q|OARD1_ENST00000486443.1_Missense_Mutation_p.E102Q|OARD1_ENST00000244558.9_Missense_Mutation_p.E30Q					O-acyl-ADP-ribose deacylase 1																		TCTGTTGCCTCAAATACCTCC	0.428000													24	39					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45789669	45789669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:45789669C>A	ENST00000357450.4	-	9	1389	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.E464*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	464					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)		TTTGTTTTTTCAATTTCATCC	0.313000													9	24					0.000274275	0.000281883	1	1	0
GALNT12	79695	broad.mit.edu	37	9	101585620	101585620	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:101585620C>G	ENST00000375011.3	+	2	454	c.454C>G	c.(454-456)Ctc>Gtc	p.L152V		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	152	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTGGTCAACTCTCCTTCGGAC	0.438000													20	54					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			34	136					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19749051	19749051	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:19749051C>T	ENST00000203556.4	-	9	843	c.706G>A	c.(706-708)Gag>Aag	p.E236K	GMIP_ENST00000587238.1_Missense_Mutation_p.E236K|GMIP_ENST00000445806.2_Missense_Mutation_p.E236K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	236					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCGAGTCCTCAGGGGACCCC	0.736000													3	8					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16244529	16244529	+	Missense_Mutation	SNP	C	C	T	rs74315109		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:16244529C>T	ENST00000205557.7	-	30	4338	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1437	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATCTGCAGCTCCGTGCCAGGG	0.637000													10	2					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785373	12785373	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:12785373C>A	ENST00000332530.3	+	3	479	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	AADACL3_ENST00000359318.5_Missense_Mutation_p.L155M	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	155							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCCAGATCTGCCCCGGAT	0.542000													21	81					7.45023e-12	8.00757e-12	1	1	0
ENGASE	64772	broad.mit.edu	37	17	77082389	77082389	+	Silent	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:77082389C>A	ENST00000579016.1	+	14	2190	c.2190C>A	c.(2188-2190)gcC>gcA	p.A730A		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	730						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TACCTCAGGCCGAGTGGGGCA	0.652000													10	30					0.00829132	0.00839869	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389137	1389137	+	Missense_Mutation	SNP	G	G	A	rs71299249		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:1389137G>A	ENST00000324803.4	+	1	3798	c.838G>A	c.(838-840)Gcc>Acc	p.A280T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	280					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGGGTGCCCGCCTGCTCACA	0.692000													34	202					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371060	240371060	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:240371060G>A	ENST00000319653.9	+	5	3178	c.2948G>A	c.(2947-2949)gGa>gAa	p.G983E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	983	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.711000													4	20					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151553	44151553	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:44151553C>T	ENST00000223357.3	+	16	2246	c.1941C>T	c.(1939-1941)cgC>cgT	p.R647R	AEBP1_ENST00000450684.2_Silent_p.R222R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	647	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGAGTACCGCGATGGGAACC	0.637000													9	25					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63968618	63968618	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:63968618G>C	ENST00000398590.3	+	8	1569	c.1016G>C	c.(1015-1017)aGa>aCa	p.R339T	ATXN7_ENST00000538065.1_Missense_Mutation_p.R339T|ATXN7_ENST00000487717.1_Missense_Mutation_p.R339T|ATXN7_ENST00000295900.6_Missense_Mutation_p.R339T|ATXN7_ENST00000484332.1_Missense_Mutation_p.R194T	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	339	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TTGACAGAAAGAGAGTTTGAT	0.423000													9	26					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65445896	65445896	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:65445896G>A	ENST00000300107.3	-	12	1881	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	565					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						ATTATGGACCGAAGGCCTCGT	0.353000													20	41					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67862415	67862415	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:67862415C>T	ENST00000562787.1	-	15	2072	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	CENPT_ENST00000440851.2_Silent_p.K508K|CENPT_ENST00000564817.1_Silent_p.K453K|CENPT_ENST00000219172.3_Silent_p.K508K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	508					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTTCACAGTCTTGCGGCCAG	0.547000													16	42					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37735690	37735690	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:37735690G>A	ENST00000539465.1	+	13	1953	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	FRMPD1_ENST00000541302.1_Missense_Mutation_p.E323K|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E454K|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.E276K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	454	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGAAGAGTCTGAGAAAGTGAG	0.458000													8	43					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139751896	139751896	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:139751896G>C	ENST00000230993.6	+	20	2847	c.2812G>C	c.(2812-2814)Gat>Cat	p.D938H	SLC4A9_ENST00000432095.2_Missense_Mutation_p.D900H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.D914H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.D851H|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.D938H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	938	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGCTGGATGAGCTGAT	0.572000													10	6					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112303151	112303151	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:112303151C>T	ENST00000369702.4	+	4	1241	c.621C>T	c.(619-621)ctC>ctT	p.L207L	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	207	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTATACGCCTCTTTATTCTTG	0.318000													13	67					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11688075	11688075	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:11688075C>T	ENST00000592828.1	-	4	460	c.58G>A	c.(58-60)Gat>Aat	p.D20N	ACP5_ENST00000218758.5_Missense_Mutation_p.D20N|ACP5_ENST00000412435.2_Missense_Mutation_p.D20N|ACP5_ENST00000433365.2_Missense_Mutation_p.D20N|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	20					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GTGGCACCATCAGCCAGGGAG	0.622000													3	13					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166221755	166221755	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:166221755G>A	ENST00000375437.2	+	18	3792	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	SCN2A_ENST00000357398.3_Missense_Mutation_p.E1168K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1168K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E1168K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1168					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCTTGAACCTGAAGCCTGTTT	0.413000													6	41					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345213	100345213	+	RNA	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:100345213G>T	ENST00000542585.1	+	0	1120				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACAACCTGGGCCCAACTGGC	0.522000													6	38					8.12818e-05	8.4027e-05	1	1	0
RXRA	6256	broad.mit.edu	37	9	137300832	137300832	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:137300832C>T	ENST00000540193.1	+	3	1109	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RXRA_ENST00000481739.1_Silent_p.F159F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	159	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGGGCTTCTTCAAGCGGACGG	0.657000													18	58					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131676310	131676310	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:131676310G>A	ENST00000200652.3	+	9	1671	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	499					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGACTGTCCTGATTGGAATCC	0.438000													33	90					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47752382	47752382	+	Silent	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:47752382A>G	ENST00000371828.3	-	6	841	c.354T>C	c.(352-354)ccT>ccC	p.P118P	STAU1_ENST00000340954.7_Silent_p.P118P|STAU1_ENST00000371792.1_Silent_p.P118P|STAU1_ENST00000360426.4_Silent_p.P118P|STAU1_ENST00000347458.5_Silent_p.P118P|STAU1_ENST00000371856.2_Silent_p.P199P|STAU1_ENST00000371802.1_Silent_p.P118P	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	199	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CGAAATTCACAGGCAAGTTCC	0.323000													19	43					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18960894	18960894	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:18960894G>C	ENST00000420770.2	+	2	266	c.183G>C	c.(181-183)gaG>gaC	p.E61D	PAX7_ENST00000400661.3_Missense_Mutation_p.E61D|PAX7_ENST00000375375.3_Missense_Mutation_p.E61D	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	61	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AGATAGTGGAGATGGCCCACC	0.622000			T	FOXO1A	alveolar rhabdomyosarcoma								7	14					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952369	141952369	+	Missense_Mutation	SNP	C	C	T	rs149180097		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:141952369C>T	ENST00000552471.1	-	4	818	c.499G>A	c.(499-501)Gat>Aat	p.D167N	PRSS58_ENST00000547058.2_Missense_Mutation_p.D167N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	167	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D167H(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTATAGGCATCGCGACACTGA	0.428000													14	48					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107600	14107600	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:14107600G>A	ENST00000235372.7	+	8	4166	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E903K|PRDM2_ENST00000343137.4_Missense_Mutation_p.E903K|PRDM2_ENST00000311066.5_Missense_Mutation_p.E1104K|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1104						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAAACAGGAGGAATTAGAGAA	0.448000													11	62					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313437	197313437	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:197313437G>A	ENST00000367400.3	+	3	814	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	CRB1_ENST00000538660.1_Missense_Mutation_p.E227K|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.E158K|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	227	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAAATTGACGAATGTTGGTC	0.413000													38	140					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38882383	38882383	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:38882383C>T	ENST00000396821.3	-	13	1852	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	DDX17_ENST00000381633.3_Missense_Mutation_p.E506K|DDX17_ENST00000444597.1_Missense_Mutation_p.E35K	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	504					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CGGTCACACTCATCCTGATAC	0.478000													11	21					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31080064	31080064	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:31080064G>C	ENST00000259870.3	-	2	75	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	24										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCGGGCAAAGAGGCCTGAGG	0.547000													12	58					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306718	175306718	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:175306718C>G	ENST00000367674.2	-	19	4188	c.3480G>C	c.(3478-3480)ctG>ctC	p.L1160L	TNR_ENST00000263525.2_Silent_p.L1160L			Q92752	TENR_HUMAN	tenascin R		Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATTTCTGGCTCAGCTCCCCAT	0.527000													9	31					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22360108	22360108	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:22360108C>T	ENST00000263160.3	+	1	466	c.29C>T	c.(28-30)gCc>gTc	p.A10V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	10					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGGATTTTGGCCCCAGGAAAA	0.443000													8	22					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10404773	10404773	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:10404773G>C	ENST00000379613.3	-	4	994	c.738C>G	c.(736-738)ctC>ctG	p.L246L	TFAP2A_ENST00000379604.2_Silent_p.L244L|TFAP2A_ENST00000482890.1_Silent_p.L244L|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Silent_p.L238L|TFAP2A_ENST00000319516.4_Silent_p.L240L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	244					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCGACGCGTTGAGACACTCGG	0.726000													6	24					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783893	9783893	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:9783893C>T	ENST00000304374.2	+	1	636	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	80					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACGTCTTCATCGTGTCTCTGG	0.632000													4	25					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86547786	86547786	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:86547786G>A	ENST00000450689.2	-	12	1750	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S522L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S355L|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S282L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	522						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACAGTCAGCTGAACAGAGGGT	0.408000													13	31					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516590	140516590	+	Missense_Mutation	SNP	C	C	A	rs150324444		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140516590C>A	ENST00000231134.5	+	1	1791	c.1574C>A	c.(1573-1575)gCg>gAg	p.A525E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCAGGCGTTCGAGTTC	0.697000													23	32					4.72057e-08	4.99742e-08	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48699138	48699138	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:48699138C>T	ENST00000544264.1	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	CELSR3_ENST00000164024.4_Silent_p.A310A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	310					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A310A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGTTCGCCGAGGTTA	0.706000													14	39					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815614	2815614	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:2815614G>A	ENST00000301740.8	+	11	5634	c.5085G>A	c.(5083-5085)ccG>ccA	p.P1695P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1695	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GATCATCTCCGGAGCTAACAA	0.582000													5	4					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45141460	45141460	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:45141460T>A	ENST00000258770.3	-	8	1652	c.1531A>T	c.(1531-1533)Agc>Tgc	p.S511C	TBRG4_ENST00000361278.3_Missense_Mutation_p.S401C|TBRG4_ENST00000395655.4_Missense_Mutation_p.S401C|TBRG4_ENST00000494076.1_Missense_Mutation_p.S511C	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	511					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						ACCTCGAGGCTGCCCTTGTCG	0.657000													18	40					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168861552	168861552	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:168861552G>C	ENST00000264674.3	-	3	210	c.72C>G	c.(70-72)ctC>ctG	p.L24L	MECOM_ENST00000494292.1_Silent_p.L148L|MECOM_ENST00000468789.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000472280.1_5'UTR	NM_001105077.3	NP_001098547.3	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAATGTACTTGAGCCAGCTTC	0.403000													14	55					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006252	22006252	+	Silent	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:22006252G>C	ENST00000306317.2	-	8	1357	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	LGI3_ENST00000424267.2_Silent_p.L332L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	356					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCCAGCGGTAGAGGCTGGTGG	0.647000													7	17					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627312	108627312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:108627312C>T	ENST00000264047.2	+	9	2014	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*	SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.Q580*|SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.Q475*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	580					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGATAATTTACAGTGACCCCA	0.403000													3	24					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886353	45886353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:45886353G>C	ENST00000007414.3	-	21	2365	c.2174C>G	c.(2173-2175)tCa>tGa	p.S725*	OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.S725*	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	725					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGGGGGCATTGAGTCTGGGGG	0.612000													15	72					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12142328	12142328	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:12142328C>T	ENST00000566228.1	+	7	668	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGAGTCAACGCAGAACGTG	0.512000													28	149					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78566643	78566643	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:78566643C>G	ENST00000394855.3	+	5	838	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	DNAJA4_ENST00000446172.2_Missense_Mutation_p.Q148E|DNAJA4_ENST00000394852.3_Missense_Mutation_p.Q175E|DNAJA4_ENST00000343789.3_Missense_Mutation_p.Q175E	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	175					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						ACAGCAGATCCAGACCGTGTG	0.627000													7	17					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746038	47746038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:47746038G>A	ENST00000360380.3	-	13	2455	c.2092C>T	c.(2092-2094)Cag>Tag	p.Q698*	STIL_ENST00000243182.6_Nonsense_Mutation_p.Q698*|STIL_ENST00000396221.2_Nonsense_Mutation_p.Q698*|STIL_ENST00000371877.3_Nonsense_Mutation_p.Q698*|STIL_ENST00000337817.5_Nonsense_Mutation_p.Q698*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	698	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTGCAAGGCTGTGGGTTACAT	0.493000													22	134					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814651	23814651	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:23814651G>A	ENST00000264867.2	-	9	2010	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	631	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TACCTGGGCCGACGGCTGTAG	0.483000													23	69					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743453	203743453	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:203743453G>A	ENST00000442561.2	+	5	1231	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	LAX1_ENST00000367217.5_Missense_Mutation_p.E265K|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	281					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCATCCAGGAAAGGCAGCT	0.502000													6	28					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170070197	170070197	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:170070197G>T	ENST00000263816.3	-	36	6295	c.6010C>A	c.(6010-6012)Ctg>Atg	p.L2004M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2004					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGACCCCTCAGATTTGGAACA	0.363000													19	75					4.96729e-08	5.25071e-08	1	1	0
SHD	56961	broad.mit.edu	37	19	4283143	4283143	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:4283143C>T	ENST00000543264.2	+	3	1959	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	SHD_ENST00000599689.1_Missense_Mutation_p.R166W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	166										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGCCTCGGCAGAGCCG	0.592000													11	28					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86249846	86249846	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:86249846C>T	ENST00000370571.2	-	50	4537	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1391K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1391	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACACCATATTCTCCCTGCAAA	0.378000													10	32					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3148631	3148631	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:3148631C>G	ENST00000355072.5	+	25	3396	c.3251C>G	c.(3250-3252)tCa>tGa	p.S1084*		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1084					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGATCTCTCAGCCCATCAA	0.498000													21	247					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354650	31354650	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:31354650G>A	ENST00000460581.2	+	8	994	c.448G>A	c.(448-450)Gta>Ata	p.V150I	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.V262I|COCH_ENST00000475087.1_Missense_Mutation_p.V262I|COCH_ENST00000382493.4_Missense_Mutation_p.V113I|COCH_ENST00000396618.3_Missense_Mutation_p.V262I			O43405	COCH_HUMAN	cochlin	262					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGATGCTGGAGTAAGAAAAGG	0.433000													11	28					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48827920	48827920	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:48827920G>C	ENST00000505658.1	+	10	1386	c.1197G>C	c.(1195-1197)caG>caC	p.Q399H	LUC7L3_ENST00000544170.1_Missense_Mutation_p.Q323H|LUC7L3_ENST00000393227.2_Missense_Mutation_p.Q399H|LUC7L3_ENST00000240304.1_Missense_Mutation_p.Q399H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	399					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GAGAAAAGCAGAGTGAAGACA	0.383000													15	60					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877315	38877315	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:38877315C>A	ENST00000359357.3	+	63	9138	c.8884C>A	c.(8884-8886)Cgt>Agt	p.R2962S	DNAH8_ENST00000441566.1_Missense_Mutation_p.R2926S|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3179S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTCCGTGCCCGTTCTTTGAA	0.473000													4	71					0.150653	0.150653	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98804563	98804563	+	Silent	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:98804563C>A	ENST00000477737.1	+	10	1641	c.1437C>A	c.(1435-1437)atC>atA	p.I479I	VWA3B_ENST00000451075.2_Silent_p.I329I|VWA3B_ENST00000435344.1_Silent_p.I479I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	479										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGAGAGAATCCACACAGCCC	0.488000													14	53					0.000151284	0.000155936	1	1	0
DSP	1832	broad.mit.edu	37	6	7580473	7580473	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:7580473G>A	ENST00000379802.3	+	23	4391	c.4050G>A	c.(4048-4050)aaG>aaA	p.K1350K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1350	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACTGAGTAAGGTAAGAAACA	0.438000													7	61					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28589818	28589818	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:28589818C>A	ENST00000380982.4	-	21	2652	c.2571G>T	c.(2569-2571)tgG>tgT	p.W857C	FLT3_ENST00000241453.7_Missense_Mutation_p.W854C|FLT3_ENST00000537084.1_Missense_Mutation_p.W813C			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	854	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGGGGGCCATCCATTTTACAG	0.418000			"""Mis, O"""		"""AML, ALL"""								13	33					8.60227e-14	9.28834e-14	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111430914	111430914	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:111430914C>G	ENST00000265162.5	+	5	1487	c.1145C>G	c.(1144-1146)tCa>tGa	p.S382*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	382					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCCTCATCAAACCAACAG	0.463000													15	45					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55657471	55657471	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:55657471C>A	ENST00000449290.2	+	6	907	c.815C>A	c.(814-816)gCa>gAa	p.A272E	TRIM51_ENST00000244891.3_Missense_Mutation_p.A129E	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	272	B30.2/SPRY.					intracellular	zinc ion binding										GAGCTCAGTGCAGGGCCCATC	0.483000													7	18					0.00198382	0.00202114	1	1	0
DDX17	10521	broad.mit.edu	37	22	38891927	38891927	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:38891927G>A	ENST00000396821.3	-	6	853	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.P173S	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	173	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCTCTGGTAGGAGCCAGAACT	0.388000													10	29					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71152281	71152281	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:71152281C>A	ENST00000377311.3	-	2	459	c.407G>T	c.(406-408)gGa>gTa	p.G136V		NM_153237.1	NP_694969.1			transmembrane protein 252																		GGAGTCATTTCCATCCTGGAA	0.572000													16	26					4.7546e-09	5.07158e-09	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74757176	74757176	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:74757176C>T	ENST00000258080.3	+	1	673	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	HTRA2_ENST00000352222.3_Missense_Mutation_p.R15W|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	15					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CTGGAGCCTTCGGGCATGGCG	0.726000													6	22					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705160	52705160	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:52705160G>A	ENST00000287727.3	+	4	2243	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E691K|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E691K			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	691					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CACTCTGGGTGAGGTGGCTCC	0.488000													17	71					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26443838	26443838	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:26443838C>T	ENST00000244519.2	+	3	279	c.36C>T	c.(34-36)ctC>ctT	p.L12L	BTN3A3_ENST00000361232.3_Intron|BTN3A3_ENST00000339789.4_Intron	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	12						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TCCTTCTGCTCAACTTTCATG	0.448000													7	78					0	0	1	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53251260	53251260	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr14:53251260C>T	ENST00000216410.3	-	2	296	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	37					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					ACCAAGCCTTCTCCAGGATGT	0.403000													10	42					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349751	134349751	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:134349751G>A	ENST00000275230.5	-	2	1367	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	404						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AGTGGTCTCTGAGAGTATTGT	0.468000													13	47					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044760	20044760	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:20044760G>C	ENST00000343769.5	+	4	1024	c.996G>C	c.(994-996)aaG>aaC	p.K332N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTACACATAAGAGAATTCATA	0.378000													12	44					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657360	49657360	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:49657360C>T	ENST00000252825.4	-	1	1321	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	HRC_ENST00000595625.1_Missense_Mutation_p.E379K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	379					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCTTCTTCCTCTTCCTCA	0.517000													16	27					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67692674	67692674	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:67692674C>G	ENST00000219251.8	-	8	1271	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	ACD_ENST00000393919.4_Missense_Mutation_p.E317Q	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	317	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGTCATTCTCAGAGATGCAC	0.562000													14	22					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400106	85400106	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:85400106G>A	ENST00000258888.5	+	6	2910	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	915					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)			GACGCAGTCAGAGGGGAGCGC	0.612000													14	30					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606572	21606572	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:21606572C>T	ENST00000392288.2	+	4	1220	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H243Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAAAGAATTCATACTGGAGA	0.343000													13	75					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57840102	57840102	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:57840102A>G	ENST00000264230.4	-	2	2468	c.1231T>C	c.(1231-1233)Tca>Cca	p.S411P		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	411							GTP binding										GCTTGAGTTGAATCTTTTTTA	0.358000													5	75					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916131	131916131	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:131916131C>A	ENST00000286355.5	-	7	3890	c.1798G>T	c.(1798-1800)Gat>Tat	p.D600Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.D600Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	600					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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGACGATATCTTCAGGCAAG	0.478000										HNSCC(32;0.087)			15	75					1.49906e-05	1.56115e-05	1	1	0
FERMT3	83706	broad.mit.edu	37	11	63990556	63990556	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:63990556C>T	ENST00000279227.5	+	14	1814	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	FERMT3_ENST00000345728.5_Silent_p.I569I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	573					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.I573I(1)|p.I569I(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TCCTGGGCATCGCCAACAACC	0.622000													7	34					0	0	1	0	0
C20orf144	128864	broad.mit.edu	37	20	32251464	32251464	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:32251464G>A	ENST00000375222.3	+	2	315	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	85										lung(1)	1						CGGAGCGGGCGAAGGTAGCGA	0.736000													5	6					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416969	416969	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:416969G>C	ENST00000399788.2	-	23	3943	c.3581C>G	c.(3580-3582)tCa>tGa	p.S1194*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.S1194*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1194					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGGGAACTTGATTTAGGAAG	0.448000			T	NUP98	AML								22	79					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155221306	155221306	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:155221306C>T	ENST00000361361.2	-	7	1390	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000350210.2_Missense_Mutation_p.R198Q|FAM189B_ENST00000368368.3_Missense_Mutation_p.R276Q	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	294						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCTGTCTCCTCGTAGTCCCAT	0.582000													6	16					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248409	59248409	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:59248409C>T	ENST00000371222.2	-	1	1376	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	112					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	p.E112Q(1)|p.E112K(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	ACGAAGCCCTCGGCGAAGCCC	0.672000			A		sarcoma								10	55					0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246704483	246704483	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:246704483C>T	ENST00000366514.4	-	8	1226	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	347					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.A347A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATATATCTCTCGCATCAAGTG	0.363000													7	14					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986395	61986395	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:61986395C>G	ENST00000409186.1	-	5	3942	c.1837G>C	c.(1837-1839)Gac>Cac	p.D613H	PCDH20_ENST00000409204.4_Missense_Mutation_p.D613H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	586	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCCCACAGTCAACAGCTCTG	0.443000													26	38					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760784	20760784	+	Silent	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr22:20760784C>G	ENST00000400451.2	+	5	1975	c.1461C>G	c.(1459-1461)ctC>ctG	p.L487L	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.L455L|ZNF74_ENST00000356671.5_Silent_p.L487L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	487					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACGCCTACCTCATCGTGCACC	0.642000													18	63					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886259	45886259	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:45886259G>A	ENST00000007414.3	-	21	2459	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	OSBPL7_ENST00000392507.3_Silent_p.S756S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	756					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TCGTGTCGGTGGAAGGCAGCG	0.592000													21	80					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055673	76055673	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:76055673C>T	ENST00000377636.3	-	1	577	c.231G>A	c.(229-231)ccG>ccA	p.P77P	TBC1D4_ENST00000431480.2_Silent_p.P77P|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.P77P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	77	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTcgggccgccggcgccccgc	0.756000													3	9					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11035261	11035261	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:11035261C>T	ENST00000428168.2	-	3	174	c.137G>A	c.(136-138)cGt>cAt	p.R46H	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	46	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGGTCCCTGACGCTCCTCATC	0.547000													10	43					0	0	1	0	0
RTCA	8634	broad.mit.edu	37	1	100756989	100756989	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:100756989G>A	ENST00000370128.4	+	11	1199	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	RTCA_ENST00000260563.4_Missense_Mutation_p.E357K	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	344					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										ATCAGAAGATGAAGAAGACGC	0.353000													17	73					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256414	63256414	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:63256414G>A	ENST00000323865.3	-	1	1366	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	378					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAACAGGGTGGGCATGTGGCA	0.532000													35	56					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45412383	45412383	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:45412383G>A	ENST00000558996.1	-	5	609	c.555C>T	c.(553-555)ctC>ctT	p.L185L	DUOXA1_ENST00000560572.1_Silent_p.L230L|DUOXA1_ENST00000559014.1_Silent_p.L230L|DUOXA1_ENST00000267803.4_Silent_p.L230L|DUOXA1_ENST00000430224.2_Silent_p.L185L|DUOXA1_ENST00000558422.1_Silent_p.L185L	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	230					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		AGGGTGAGGTGAGTGATGTGG	0.562000													13	61					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88204598	88204598	+	Splice_Site	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:88204598T>C	ENST00000357081.3	-	20	2713		c.e20-2		AGTPBP1_ENST00000376109.3_Splice_Site|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Splice_Site|AGTPBP1_ENST00000337006.4_Splice_Site			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1						C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGATGCATCTTGATAAAAAT	0.343000													9	11					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716894	13716894	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:13716894G>A	ENST00000609686.1	-	13	3487	c.3278C>T	c.(3277-3279)cCt>cTt	p.P1093L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCCGAGGCAGGCCGCTTCTT	0.607000													9	10					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16675230	16675230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:16675230G>A	ENST00000513610.1	-	35	5150	c.4696C>T	c.(4696-4698)Cag>Tag	p.Q1566*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.Q905*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.Q905*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.Q923*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.Q923*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1566	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCCTCATCCTGAAGGGTGGTA	0.483000													4	40					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35392262	35392262	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:35392262G>A	ENST00000311565.4	+	8	1133	c.784G>A	c.(784-786)Gag>Aag	p.E262K	PPARD_ENST00000337400.2_Missense_Mutation_p.E262K|PPARD_ENST00000448077.2_Missense_Mutation_p.E223K|PPARD_ENST00000444397.1_Missense_Mutation_p.E262K|PPARD_ENST00000360694.3_Missense_Mutation_p.E262K|PPARD_ENST00000540939.1_Missense_Mutation_p.E159K|PPARD_ENST00000418635.2_Missense_Mutation_p.E164K	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	262	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGAGCTCACTGAGTTCGCCAA	0.592000													5	32					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94939357	94939357	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:94939357G>C	ENST00000370214.4	+	5	395	c.371G>C	c.(370-372)aGa>aCa	p.R124T	ABCD3_ENST00000454898.2_Missense_Mutation_p.R148T|ABCD3_ENST00000536817.1_Missense_Mutation_p.R51T|ABCD3_ENST00000315713.5_Missense_Mutation_p.R124T|ABCD3_ENST00000394233.2_Missense_Mutation_p.R124T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	124	ABC transmembrane type-1.|Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GATTTCAAGAGATACTTACTC	0.353000													10	43					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52752757	52752757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr4:52752757G>T	ENST00000334635.5	+	6	547	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	DCUN1D4_ENST00000381441.3_Nonsense_Mutation_p.E123*|DCUN1D4_ENST00000451288.2_Nonsense_Mutation_p.E167*|DCUN1D4_ENST00000381437.4_Nonsense_Mutation_p.E63*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	123	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TGTAGGCCCTGAAGGCATGGA	0.368000													8	30					0.00307968	0.00313308	1	1	0
MPO	4353	broad.mit.edu	37	17	56358093	56358093	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:56358093G>A	ENST00000340482.3	-	1	203	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MPO_ENST00000225275.3_Silent_p.L9L			P05164	PERM_HUMAN	myeloperoxidase	9					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCATGCATCTGAGAGAAGAGA	0.582000													7	27					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69773218	69773218	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:69773218C>T	ENST00000395889.2	-	28	2537	c.2382G>A	c.(2380-2382)aaG>aaA	p.K794K	TEX11_ENST00000344304.3_Silent_p.K794K|TEX11_ENST00000374320.2_Silent_p.K469K|TEX11_ENST00000374333.2_Silent_p.K779K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	794							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTTTCAAGGCCTTGAGAGCAA	0.368000													10	14					0	0	1	0	0
LPAR2	9170	broad.mit.edu	37	19	19738055	19738055	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:19738055G>C	ENST00000542587.1	-	5	941	c.39C>G	c.(37-39)atC>atG	p.I13M	LPAR2_ENST00000407877.3_Missense_Mutation_p.I13M|LPAR2_ENST00000586703.1_Missense_Mutation_p.I13M			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	13					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGAAGAAGCCGATGGTCTCGT	0.587000													13	65					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815805	43815805	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr15:43815805G>A	ENST00000382031.1	+	5	2879	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E712K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E712K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	712						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGGCCCCTGAGAAGGAGAC	0.537000													3	13					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78789981	78789981	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:78789981G>A	ENST00000545128.1	+	14	2374	c.1836G>A	c.(1834-1836)gtG>gtA	p.V612V	PCSK5_ENST00000376767.3_Silent_p.V612V|PCSK5_ENST00000376752.4_Silent_p.V612V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	612					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTCCGAAAGTGGAACGGTTCC	0.463000													11	65					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15486845	15486845	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:15486845C>T	ENST00000380733.4	-	5	716	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	PSIP1_ENST00000397519.2_Missense_Mutation_p.E125K|PSIP1_ENST00000380738.4_Missense_Mutation_p.E125K|PSIP1_ENST00000380716.4_Missense_Mutation_p.E125K|PSIP1_ENST00000380715.1_Missense_Mutation_p.E125K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	125					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GCTTTTTCTTCATGGTCGGTA	0.348000													18	78					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852216	16852216	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:16852216C>T	ENST00000437538.2	-	2	151	c.143G>A	c.(142-144)gGa>gAa	p.G48E	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G48E|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G94E|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G94E|TNFRSF13B_ENST00000581616.2_5'UTR			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	94					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGGGTGCTGTCCACAGATGGA	0.532000									IgA Deficiency, Selective				43	53					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2616453	2616453	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:2616453G>A	ENST00000261597.4	+	17	1991	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	603	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGAGGAGCAGATTGCTAAAG	0.269000													49	35					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973317	235973317	+	Silent	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:235973317T>C	ENST00000389794.3	-	5	975	c.801A>G	c.(799-801)aaA>aaG	p.K267K	LYST_ENST00000536965.1_Silent_p.K267K|LYST_ENST00000389793.2_Silent_p.K267K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	267					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTTACAAACTTTTTCTAATA	0.388000													8	29					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	722085	722085	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:722085C>T	ENST00000315082.4	+	14	1213	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	367					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CACCCCCAGCCTGGTGACCTA	0.657000													21	23					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56886099	56886099	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr20:56886099G>T	ENST00000244040.3	+	2	318	c.37G>T	c.(37-39)Gat>Tat	p.D13Y	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	13					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTCTTTCAGGATACAGGTGT	0.388000													8	77					1.76689e-08	1.87616e-08	1	1	0
COPE	11316	broad.mit.edu	37	19	19030098	19030098	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:19030098G>C	ENST00000600932.1	-	1	91	c.60C>G	c.(58-60)ttC>ttG	p.F20L	COPE_ENST00000351079.4_Missense_Mutation_p.F20L|COPE_ENST00000262812.4_Missense_Mutation_p.F20L|COPE_ENST00000349893.4_Missense_Mutation_p.F20L|AC002985.3_ENST00000596918.1_Intron			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	20					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TCTTTACGTCGAACAGCTCGT	0.672000													17	49					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153247910	153247910	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:153247910C>G	ENST00000369982.4	+	2	1144	c.397C>G	c.(397-399)Cta>Gta	p.L133V		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	133						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCTACCTAGACCGCGG	0.677000													5	3					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958666	88958666	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:88958666C>G	ENST00000268679.4	-	4	1003	c.607G>C	c.(607-609)Gtg>Ctg	p.V203L	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.V117L|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.V117L|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.V178L|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.V127L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCCCAGCACCAGTGTGCGC	0.627000			T	RUNX1	AML								6	26					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338188	72338188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:72338188C>T	ENST00000333850.3	+	3	511	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	124	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAGCTCATTCAGTTGCTGAA	0.433000													21	63					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808435	93808435	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:93808435C>A	ENST00000315765.9	+	9	1608	c.1600C>A	c.(1600-1602)Ccc>Acc	p.P534T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	534	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGTGATCCTCCCTGTCTGAC	0.502000													20	15					8.28177e-16	8.99748e-16	1	1	0
SMARCD3	6604	broad.mit.edu	37	7	150939849	150939849	+	Silent	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:150939849C>T	ENST00000392811.2	-	5	849	c.375G>A	c.(373-375)cgG>cgA	p.R125R	SMARCD3_ENST00000262188.8_Silent_p.R138R|SMARCD3_ENST00000356800.2_Silent_p.R125R|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	138					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCCGCTTCCGCATGATGG	0.572000													25	66					0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36935668	36935668	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:36935668G>A	ENST00000269554.3	-	5	1102	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	208	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACAGTGAGCCGATGGCTGAAC	0.567000													17	55					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73041037	73041037	+	RNA	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:73041037G>C	ENST00000604411.1	+	0	28998				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATGAAAACTAGAAAATTTCAA	0.358000													8	3					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791111	41791111	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:41791111G>C	ENST00000396930.3	-	18	5170	c.4627C>G	c.(4627-4629)Cag>Gag	p.Q1543E	KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1543E|KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1543E	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1543	Interaction with RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ACCACCTGCTGAGAGTGGTCT	0.567000													9	47					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080891	57080891	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:57080891A>T	ENST00000532437.1	-	4	1582	c.1271T>A	c.(1270-1272)gTt>gAt	p.V424D	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V424D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	424	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCGGCGCTGAACCAGGCTGGT	0.657000													8	2					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205035604	205035604	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:205035604G>A	ENST00000331830.4	+	15	2136	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	618	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTGGTGAGGGACATTGGCGA	0.607000													10	30					0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56816838	56816838	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr18:56816838A>G	ENST00000587834.1	+	2	653	c.181A>G	c.(181-183)Atc>Gtc	p.I61V	SEC11C_ENST00000588875.1_Missense_Mutation_p.I61V	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	61					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TGAGAGCCCCATCGTGGTGGT	0.557000													27	31					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42987036	42987036	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:42987036G>A	ENST00000326974.4	+	10	1209	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	KLHDC3_ENST00000244670.8_Silent_p.L204L|KLHDC3_ENST00000332245.8_Silent_p.L279L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	338					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCCCTAGTCTGAAGACTCTGT	0.493000													35	208					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219423230	219423230	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:219423230C>G	ENST00000258399.3	-	4	559	c.147G>C	c.(145-147)agG>agC	p.R49S	USP37_ENST00000415516.1_Intron|USP37_ENST00000418019.1_Missense_Mutation_p.R49S|USP37_ENST00000338465.5_Missense_Mutation_p.R49S|USP37_ENST00000454775.1_Missense_Mutation_p.R49S	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	49					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGAAATATCCTTGGAATTC	0.358000													36	110					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581700	77581700	+	Silent	SNP	T	T	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr13:77581700T>C	ENST00000355619.5	-	5	1191	c.867A>G	c.(865-867)ttA>ttG	p.L289L	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	289					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AATACATCACTAAGTTCACTT	0.398000													9	41					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128851832	128851832	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:128851832C>G	ENST00000310343.9	-	15	1484		c.e15-1		ARHGAP32_ENST00000392657.3_Splice_Site|ARHGAP32_ENST00000527272.1_Splice_Site|ARHGAP32_ENST00000524655.1_Splice_Site	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32						cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCAGTGTTCTGGAAATAAA	0.348000													9	17					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29820955	29820955	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:29820955G>A	ENST00000375398.2	-	11	2434	c.1985C>T	c.(1984-1986)tCa>tTa	p.S662L	SVIL_ENST00000355867.4_Missense_Mutation_p.S662L|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	662					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCGTTCTGCTGAAGTTATAGG	0.483000													18	81					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31532158	31532158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:31532158G>A	ENST00000373747.3	-	2	355	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q122*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.Q86*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q86*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q86*|PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q86*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q122*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q86*	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	86					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGCTGCCTCTGAAAGAAGTAG	0.537000													41	46					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47745998	47745998	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:47745998G>A	ENST00000360380.3	-	13	2495	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	STIL_ENST00000243182.6_Missense_Mutation_p.S711L|STIL_ENST00000396221.2_Missense_Mutation_p.S711L|STIL_ENST00000371877.3_Missense_Mutation_p.S711L|STIL_ENST00000337817.5_Missense_Mutation_p.S711L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	711	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCCATTATCTGACTCAGTCTT	0.478000													15	95					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147085	26147085	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr16:26147085C>T	ENST00000331351.5	+	2	1279	c.887C>T	c.(886-888)tCt>tTt	p.S296F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	296					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGGGCCATCTCTGACTACACG	0.532000													13	105					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135906408	135906408	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:135906408G>C	ENST00000372097.5	+	1	333	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	GTF3C5_ENST00000372099.6_Missense_Mutation_p.E4Q|GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E4Q|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E4Q	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	4						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GATGGCGGCGGAGGCGGCCGA	0.687000													4	17					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112884285	112884285	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:112884285G>A	ENST00000161863.4	+	11	1756	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T	YTHDC2_ENST00000515883.1_Missense_Mutation_p.A515T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	515							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GATGGTTGCTGCAGGACGTGG	0.363000													3	42					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34636906	34636906	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:34636906G>A	ENST00000374789.3	-	15	2530	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	PARD3_ENST00000346874.4_Silent_p.L735L|PARD3_ENST00000545260.1_Silent_p.L678L|PARD3_ENST00000340077.5_Silent_p.L735L|PARD3_ENST00000374794.3_Silent_p.L678L|PARD3_ENST00000374773.1_Silent_p.L735L|PARD3_ENST00000374768.1_Silent_p.L173L|PARD3_ENST00000544292.1_Silent_p.L452L|PARD3_ENST00000374776.1_Silent_p.L722L|PARD3_ENST00000350537.4_Silent_p.L722L|PARD3_ENST00000545693.1_Silent_p.L722L|PARD3_ENST00000374788.3_Silent_p.L735L|PARD3_ENST00000374790.3_Silent_p.L678L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	735	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTATCCTACTGAGGGCAGCAT	0.413000													5	27					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398525	57398525	+	Silent	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:57398525G>A	ENST00000300101.2	-	2	262	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	59	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CAGTATTCAGGAAGAGGTTCT	0.557000													16	56					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840895	38840895	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:38840895C>T	ENST00000359357.3	+	49	7054	c.6800C>T	c.(6799-6801)tCt>tTt	p.S2267F	DNAH8_ENST00000441566.1_Missense_Mutation_p.S2231F|DNAH8_ENST00000449981.2_Missense_Mutation_p.S2484F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCAGCAGCTCTGCTCTCAGC	0.502000													18	62					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			17	27					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986231	42986231	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:42986231G>A	ENST00000326974.4	+	6	865	c.670G>A	c.(670-672)Gag>Aag	p.E224K	KLHDC3_ENST00000244670.8_Missense_Mutation_p.E90K|KLHDC3_ENST00000332245.8_Missense_Mutation_p.E165K	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	224					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACCAGAACTGAGGCTTGGCT	0.567000													27	100					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677148	38677148	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr8:38677148C>G	ENST00000379931.3	+	3	765	c.386C>G	c.(385-387)tCt>tGt	p.S129C	TACC1_ENST00000443286.2_Missense_Mutation_p.S145C|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.S93C|TACC1_ENST00000317827.4_Missense_Mutation_p.S129C|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.S84C|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	129					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCCATTGACTCTCACTCAGTC	0.398000													15	23					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49219241	49219241	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:49219241C>T	ENST00000301050.2	+	8	797	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	CACNB3_ENST00000547392.1_Missense_Mutation_p.L173F|CACNB3_ENST00000536187.2_Missense_Mutation_p.L199F|CACNB3_ENST00000540990.1_Missense_Mutation_p.L187F|CACNB3_ENST00000547230.1_Missense_Mutation_p.L159F	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	200					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GCAGAAGGCTCTCTTCGACTT	0.562000													12	43					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210016851	210016851	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:210016851C>T	ENST00000491415.2	+	11	1894	c.1837C>T	c.(1837-1839)Cac>Tac	p.H613Y		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	613					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGTCATGTCTCACACGCTCAT	0.413000													7	40					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101075843	101075843	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:101075843G>T	ENST00000369162.2	-	28	4740	c.4396C>A	c.(4396-4398)Cta>Ata	p.L1466I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1466	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATGACCTCTAGAACAGGGCCT	0.393000													7	16					8.12818e-05	8.4027e-05	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	174815006	174815006	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:174815006C>T	ENST00000454872.1	+	2	598	c.470C>T	c.(469-471)tCa>tTa	p.S157L	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	157					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCTCCATCTTCAGGAACAGTT	0.358000													30	82					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121437783	121437783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr11:121437783C>T	ENST00000260197.7	+	22	3313	c.3184C>T	c.(3184-3186)Cag>Tag	p.Q1062*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q6*	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1062	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACTGCCCTCAGGGCTATCA	0.527000													5	17					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40278824	40278824	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:40278824C>G	ENST00000393860.3	-	6	800	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	CTD-2132N18.3_ENST00000592574.1_Intron|RAB5C_ENST00000346213.4_Missense_Mutation_p.E162Q|RAB5C_ENST00000547517.1_Missense_Mutation_p.E195Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	162					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCTGATGTCTCCATGAACAGC	0.527000													26	132					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418052	4418052	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:4418052G>C	ENST00000301280.5	+	4	1097	c.996G>C	c.(994-996)aaG>aaC	p.K332N		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	332	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACAGAGAAGAACAAGCTCA	0.353000								Chromatin Structure					13	52					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45004718	45004718	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:45004718C>G	ENST00000429094.2	-	14	1984	c.1480G>C	c.(1480-1482)Gat>Cat	p.D494H	NELL2_ENST00000437801.2_Missense_Mutation_p.D544H|NELL2_ENST00000551601.1_Missense_Mutation_p.D493H|NELL2_ENST00000452445.2_Missense_Mutation_p.D494H|NELL2_ENST00000395487.2_Missense_Mutation_p.D493H|NELL2_ENST00000333837.4_Missense_Mutation_p.D517H|NELL2_ENST00000549027.1_Missense_Mutation_p.D493H	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	494	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCATTTTCATCACAGTTGTGC	0.363000													19	41					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855904	140855904	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:140855904G>A	ENST00000308177.3	+	1	325	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTAGCCGAAGATTCTTT	0.572000													24	65					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816064	31816064	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr10:31816064G>A	ENST00000446923.2	+	9	3590	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K	ZEB1_ENST00000320985.10_Missense_Mutation_p.E1083K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1063K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1084K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E1016K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1083	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ggcagagaatgagggagaaga	0.458000													4	12					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48538699	48538699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:48538699C>T	ENST00000427954.2	+	4	539	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	ACSF2_ENST00000502667.1_Nonsense_Mutation_p.Q141*|ACSF2_ENST00000300441.4_Nonsense_Mutation_p.Q141*|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	141					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTGCTCATGCAGTTGGCCAC	0.607000													3	25					0	0	1	0	0
CALM2	805	broad.mit.edu	37	2	47397880	47397880	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:47397880C>G	ENST00000272298.7	-	2	184	c.27G>C	c.(25-27)caG>caC	p.Q9H	RP11-761B3.1_ENST00000422269.1_Missense_Mutation_p.R32T|CALM2_ENST00000484408.1_5'UTR|CALM2_ENST00000409563.1_5'UTR	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	9	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	CACCTGCAATCTGCTCTTCAG	0.358000													11	58					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109393588	109393588	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr2:109393588G>A	ENST00000283195.6	+	25	8626	c.8500G>A	c.(8500-8502)Gaa>Aaa	p.E2834K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2834					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTGCCAGGGGAAAGCAAGAT	0.383000													7	42					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19162728	19162728	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr19:19162728G>A	ENST00000535612.1	+	5	1009	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ARMC6_ENST00000269932.6_Missense_Mutation_p.D168N|ARMC6_ENST00000546344.1_Missense_Mutation_p.D100N|ARMC6_ENST00000392336.3_Missense_Mutation_p.D193N|ARMC6_ENST00000392335.2_Missense_Mutation_p.D168N	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	193							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGATGAGGCTGACCTGACCTG	0.602000													4	15					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206574968	206574968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr1:206574968delT	ENST00000414007.1	+	4	600	c.600delT	c.(598-600)cctfs	p.P200fs	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	340					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCTGCCCCCCTATGAAGTTTG	0.517													11	17	---	---	---	---					
ATP11B	23200	broad.mit.edu	37	3	182631724	182631725	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr3:182631724_182631725delTC	ENST00000323116.5	+	29	3654_3655	c.3394_3395delTC	c.(3394-3396)tctfs	p.S1132fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1132					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGCGTGTGCATCTGTTGGAAGA	0.475													46	202	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127622496	127622507	+	In_Frame_Del	DEL	CCCCTAGATTCA	CCCCTAGATTCA	-	rs144225466		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr5:127622496_127622507delCCCCTAGATTCA	ENST00000508053.1	-	61	7889_7900	c.6915_6926delTGAATCTAGGGG	c.(6913-6927)tgtgaatctaggggc>tgc	p.ESRG2306del	FBN2_ENST00000262464.4_In_Frame_Del_p.ESRG2306del			P35556	FBN2_HUMAN	fibrillin 2	2306	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2308R(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACATCATGCCCCTAGATTCACAGTCGTGTA	0.439													8	11	---	---	---	---					
ADTRP	84830	broad.mit.edu	37	6	11778916	11778917	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr6:11778916_11778917delTG	ENST00000414691.3	-	1	486_487	c.76_77delCA	c.(76-78)cagfs	p.Q26fs	ADTRP_ENST00000229583.5_Frame_Shift_Del_p.Q26fs|ADTRP_ENST00000379413.2_Frame_Shift_Del_p.Q26fs	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	26						integral to membrane											TTTTCCTTCCTGTGAGATGTAA	0.460													83	55	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													2	4	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													7	6	---	---	---	---					
WDR38	401551	broad.mit.edu	37	9	127618143	127618146	+	Frame_Shift_Del	DEL	ACCA	ACCA	-			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr9:127618143_127618146delACCA	ENST00000373574.1	+	4	367_370	c.311_314delACCA	c.(310-315)caccaafs	p.HQ104fs		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	104										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CCTGCAGGTCACCAACGGAGTGTG	0.618											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	55	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													2	4	---	---	---	---					
NAB2	4665	broad.mit.edu	37	12	57485387	57485388	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr12:57485387_57485388insGA	ENST00000300131.3	+	2	941_942	c.563_564insGA	c.(562-567)cggagcfs	p.S189fs	NAB2_ENST00000357680.4_Frame_Shift_Ins_p.S189fs|NAB2_ENST00000342556.6_Frame_Shift_Ins_p.S189fs|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	189					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGCCAGGCCGGAGCACTCCAG	0.683													14	15	---	---	---	---					
KRT19	3880	broad.mit.edu	37	17	39680712	39680713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chr17:39680712_39680713insT	ENST00000361566.3	-	4	800_801	c.740_741insA	c.(739-741)aagfs	p.K247fs		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CACTCAGGATCTTGGCGAGATC	0.574													24	82	---	---	---	---					
ZXDB	158586	broad.mit.edu	37	X	57618726	57618728	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:57618726_57618728delGCG	ENST00000374888.1	+	1	458_460	c.245_247delGCG	c.(244-249)agcggc>agc	p.G89del		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	89	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G89delG(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GATCAACCTAgcggcggcggcgg	0.759													2	4	---	---	---	---					
PDZD4	57595	broad.mit.edu	37	X	153074019	153074019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAML-01A-11D-A42E-08	TCGA-XF-AAML-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fed3a759-3709-4109-a860-3f493cd89e8e	e27ee2ca-5032-49db-a18f-36fff83c98c3	g.chrX:153074019delT	ENST00000164640.4	-	2	283	c.92delA	c.(91-93)cagfs	p.Q31fs	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	31						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTTGCTCCTGAGACAGCTT	0.642													2	4	---	---	---	---