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
BCLAF1	9774	broad.mit.edu	37	6	136597082	136597082	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:136597082G>A	ENST00000531224.1	-	5	1833	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	BCLAF1_ENST00000527536.1_Silent_p.F527F|BCLAF1_ENST00000392348.2_Silent_p.F525F|BCLAF1_ENST00000530767.1_Silent_p.F354F|BCLAF1_ENST00000527759.1_Silent_p.F525F|BCLAF1_ENST00000353331.4_Silent_p.F525F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	527					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTCCTCTCTGAAGGTAGACT	0.443000													22	296					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197639559	197639559	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:197639559C>G	ENST00000265239.6	-	9	1374	c.950G>C	c.(949-951)aGa>aCa	p.R317T	IQCG_ENST00000455191.1_Missense_Mutation_p.R317T	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	317										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTGCTCCTTTCTAAGGAACAT	0.413000													9	291					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887861	111887861	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:111887861C>T	ENST00000305815.5	-	25	3352	c.3100G>A	c.(3100-3102)Gat>Aat	p.D1034N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D986N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1034					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTGGTATATCTACTACATAA	0.294000													12	60					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82370923	82370923	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:82370923C>G	ENST00000379071.2	-	3	317	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	88							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GAGCCATTCTCTAATGTTATG	0.328000													23	42					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150555035	150555035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:150555035G>T	ENST00000493429.1	+	4	2061	c.1477G>T	c.(1477-1479)Gag>Tag	p.E493*	AOC1_ENST00000360937.4_Nonsense_Mutation_p.E493*|AOC1_ENST00000467291.1_Nonsense_Mutation_p.E493*|AOC1_ENST00000416793.2_Nonsense_Mutation_p.E493*|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		CTACACCCCCGAGGGGCTGCG	0.567000													11	88					1.61879e-10	1.69438e-10	1	1	0
SAYSD1	55776	broad.mit.edu	37	6	39073546	39073546	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:39073546C>T	ENST00000229903.4	-	2	313	c.214G>A	c.(214-216)Gct>Act	p.A72T	SAYSD1_ENST00000373249.1_Missense_Mutation_p.A5T	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	72						integral to membrane											TGGGGCTGAGCCGCTTCCTAG	0.463000													3	52					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231112765	231112765	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:231112765G>C	ENST00000392045.3	+	8	991	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	SP140_ENST00000343805.6_Missense_Mutation_p.E267Q|SP140_ENST00000420434.3_Missense_Mutation_p.E293Q|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	293					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGAGTCCAGAGGGAAGAGA	0.512000													9	29					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8825348	8825348	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:8825348G>A	ENST00000359865.3	+	15	3982	c.3840G>A	c.(3838-3840)ttG>ttA	p.L1280L	SOGA2_ENST00000518815.1_Silent_p.L605L|SOGA2_ENST00000517570.1_Silent_p.L1239L|SOGA2_ENST00000400050.3_Silent_p.L1239L|SOGA2_ENST00000306329.11_Silent_p.L1599L|SOGA2_ENST00000306285.7_Silent_p.L605L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1590																	CCAAGAACTTGAGTGATGACA	0.602000													7	38					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227219120	227219120	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:227219120C>G	ENST00000366769.3	-	27	4840	c.3549G>C	c.(3547-3549)ctG>ctC	p.L1183L	CDC42BPA_ENST00000366767.3_Silent_p.L1102L|CDC42BPA_ENST00000535525.1_Silent_p.L1163L|CDC42BPA_ENST00000366766.2_Silent_p.L1218L|CDC42BPA_ENST00000334218.5_Silent_p.L1183L|CDC42BPA_ENST00000366764.2_Silent_p.L1155L|CDC42BPA_ENST00000366765.3_Silent_p.L1196L	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1196	PH.				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)				GCAATTCACTCAGCACTCCCA	0.423000													57	132					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100225578	100225578	+	Silent	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:100225578G>T	ENST00000462107.1	-	14	1844	c.1557C>A	c.(1555-1557)gcC>gcA	p.A519A	TFR2_ENST00000544242.1_Silent_p.A60A|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.A519A			Q9UP52	TFR2_HUMAN	transferrin receptor 2	519					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCTGGTCTTGGCATGAAACT	0.617000													32	91					5.60225e-13	5.89826e-13	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52363045	52363045	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:52363045T>C	ENST00000296585.5	+	16	2184	c.2041T>C	c.(2041-2043)Ttc>Ctc	p.F681L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	681					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAAACTCTGCTTCAGTGCAAA	0.373000													7	30					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212190357	212190357	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:212190357C>T	ENST00000366994.3	-	4	484	c.380G>A	c.(379-381)gGa>gAa	p.G127E	INTS7_ENST00000366992.3_Missense_Mutation_p.G127E|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.G78E|INTS7_ENST00000366993.3_Missense_Mutation_p.G127E	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	127					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGCCAGACTTCCCAACATCCT	0.378000													14	84					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35467623	35467623	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:35467623G>C	ENST00000237536.4	-	2	1250	c.909C>G	c.(907-909)gtC>gtG	p.V303V	SOGA1_ENST00000357779.3_Silent_p.V65V|SOGA1_ENST00000279034.6_Silent_p.V65V	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	65										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGCTGACCTTGACATCCTGCT	0.642000													40	80					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	174946671	174946671	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:174946671C>T	ENST00000284719.3	-	8	1096	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Missense_Mutation_p.E126K|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000409546.1_Missense_Mutation_p.E304K	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	284					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						ATGTTCGCTTCCAGATACTTC	0.403000													27	42					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39229850	39229850	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:39229850G>A	ENST00000399820.3	+	16	1804	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E	WDR19_ENST00000288634.7_Silent_p.E390E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	550					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CTACCTATGAGATTCCAGATT	0.373000													12	20					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33475381	33475381	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:33475381G>A	ENST00000268876.5	+	2	196	c.99G>A	c.(97-99)ctG>ctA	p.L33L	UNC45B_ENST00000378449.1_Silent_p.L33L|UNC45B_ENST00000433649.1_Silent_p.L33L|UNC45B_ENST00000394570.2_Silent_p.L33L|UNC45B_ENST00000591048.1_Silent_p.L33L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	33					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCAGGCCCTGAAGCTGACCA	0.612000													11	52					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74239478	74239478	+	Missense_Mutation	SNP	G	G	A	rs141057976		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:74239478G>A	ENST00000261921.7	+	4	1746	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	474	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAAGGTGGCCGAGGGCCACAA	0.577000													7	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452679	179452679	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:179452679C>T	ENST00000589042.1	-	305	63679	c.63455G>A	c.(63454-63456)gGt>gAt	p.G21152D	TTN_ENST00000591111.1_Missense_Mutation_p.G19511D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12212D|TTN_ENST00000460472.2_Missense_Mutation_p.G12087D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12279D|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18584D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19511	Fibronectin type-III 53.						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)			GCGCCCAATACCAACTTGGTT	0.428000													3	41					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265445	67265445	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:67265445G>C	ENST00000356404.3	-	12	1950	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	PITPNM1_ENST00000534749.1_Silent_p.L575L|PITPNM1_ENST00000436757.2_Silent_p.L575L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	575					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CACTGTGGCAGAGTGCATCAA	0.647000													6	24					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19166160	19166160	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:19166160G>A	ENST00000535612.1	+	7	1542	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	ARMC6_ENST00000392335.2_Silent_p.T345T|ARMC6_ENST00000269932.6_Silent_p.T345T|ARMC6_ENST00000392336.3_Silent_p.T370T|ARMC6_ENST00000546344.1_Silent_p.T277T	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	370							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)			CTGGTGGGACGGAGTCCATCG	0.612000													20	40					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	91957103	91957103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:91957103G>T	ENST00000265742.3	+	5	1052	c.676G>T	c.(676-678)Gaa>Taa	p.E226*		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	226							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGCCATATGAAGGATTAAG	0.348000													5	13					0.000602214	0.000611304	1	1	0
ZMYM1	79830	broad.mit.edu	37	1	35579550	35579550	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:35579550G>A	ENST00000373330.1	+	11	2293	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	ZMYM1_ENST00000359858.4_Missense_Mutation_p.D707N|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	707						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTGGAGTTGATATGGATAA	0.358000													13	53					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576309	158576309	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:158576309C>G	ENST00000361284.1	+	1	81	c.81C>G	c.(79-81)ctC>ctG	p.L27L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTCCTTCTCTTTGCCTTGT	0.507000													24	56					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	85					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147084903	147084903	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:147084903G>C	ENST00000234739.3	+	5	1015	c.275G>C	c.(274-276)gGt>gCt	p.G92A	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	92					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCTGGAAATGGTGCCAAGGGC	0.562000			T	"""IGH@, IGL@"""	B-ALL								6	36					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411457	43411457	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43411457C>G	ENST00000310826.5	-	3	2931	c.2748G>C	c.(2746-2748)aaG>aaC	p.K916N	ZBTB21_ENST00000398499.1_Missense_Mutation_p.K916N|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K916N|ZBTB21_ENST00000398505.3_Missense_Mutation_p.K715N	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CCGTGAACATCTTCCCACACT	0.542000													15	68					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257603	158257603	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:158257603C>T	ENST00000296526.7	+	11	1873	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	GRIA2_ENST00000393815.2_Silent_p.F469F|GRIA2_ENST00000264426.9_Silent_p.F516F|GRIA2_ENST00000507898.1_Silent_p.F469F|GRIA2_ENST00000449365.1_Silent_p.F469F	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	516					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CAAAGCCCTTCATGAGCCTCG	0.408000													7	119					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553418	106553418	+	Silent	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:106553418C>A	ENST00000369096.4	+	5	1617	c.1383C>A	c.(1381-1383)ctC>ctA	p.L461L	PRDM1_ENST00000369091.2_Silent_p.L425L|PRDM1_ENST00000369089.3_Silent_p.L327L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	461					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCCCATGCTCAACCCCACTT	0.642000			"""D, N, Mis, F, S"""		DLBCL								9	65					1.12685e-05	1.15256e-05	1	1	0
STAB1	23166	broad.mit.edu	37	3	52554285	52554285	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:52554285C>G	ENST00000321725.6	+	52	5554	c.5478C>G	c.(5476-5478)ttC>ttG	p.F1826L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1826	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCTCTTTCTCCTGCAGCC	0.627000													11	99					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17639586	17639586	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:17639586C>T	ENST00000377813.1	-	3	1870	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.E523K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	523	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGAGCCCCTTCTGTCTTTTTA	0.552000													13	27					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398159	37398159	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:37398159C>T	ENST00000405091.2	-	4	459	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TEX33_ENST00000402860.3_5'UTR|TEX33_ENST00000381821.1_Missense_Mutation_p.E70K			O43247	EAN57_HUMAN	testis expressed 33	70																	GGGGGAATCTCCTTCAAGTGG	0.632000													2	3					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46662724	46662724	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:46662724G>A	ENST00000396420.3	-	3	789	c.153C>T	c.(151-153)gtC>gtT	p.V51V	POMGNT1_ENST00000371984.3_Silent_p.V51V|POMGNT1_ENST00000371992.1_Silent_p.V51V|POMGNT1_ENST00000371986.3_Silent_p.V51V|POMGNT1_ENST00000535522.1_Silent_p.V29V			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	51					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TATTGACAATGACAGTCACCA	0.527000													43	210					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1438861	1438861	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:1438861C>T	ENST00000216879.4	-	3	1129	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	NSFL1C_ENST00000350991.4_Missense_Mutation_p.E88K|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E88K|NSFL1C_ENST00000381658.4_Silent_p.R8R|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E88K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	88	Poly-Glu.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCTTCCTCTTCCTCCTCATCT	0.478000													13	78					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531465	42531465	+	Silent	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:42531465C>A	ENST00000282030.5	+	4	2456	c.2160C>A	c.(2158-2160)acC>acA	p.T720T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	720						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAGGGGAACCATCTACATTG	0.562000									Schinzel-Giedion syndrome				12	33					0.010729	0.0108297	1	1	0
BCDIN3D	144233	broad.mit.edu	37	12	50236697	50236697	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:50236697G>A	ENST00000333924.4	-	1	215	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	58	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TCTCAGGAAAGAGCTGTCGAA	0.632000													12	86					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42907031	42907031	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:42907031C>G	ENST00000244289.4	-	9	2971	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	899					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTAAGTGTCTCAGCTGACAGC	0.577000													11	47					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47645105	47645105	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:47645105G>C	ENST00000371917.4	+	37	4963	c.4963G>C	c.(4963-4965)Gaa>Caa	p.E1655Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1655					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTAAAACAAGAAACCAGCAG	0.398000													16	63					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487891	56487891	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:56487891G>C	ENST00000267101.3	+	14	2062	c.1622G>C	c.(1621-1623)cGa>cCa	p.R541P	ERBB3_ENST00000415288.2_Missense_Mutation_p.R482P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	541					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			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGGAGCCTCGAGAATTTGCC	0.567000													5	60					0	0	1	0	0
ARMC10	83787	broad.mit.edu	37	7	102738848	102738848	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:102738848G>C	ENST00000323716.3	+	7	1272	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	ARMC10_ENST00000454559.1_Missense_Mutation_p.E200Q|ARMC10_ENST00000425331.1_Missense_Mutation_p.E235Q|ARMC10_ENST00000428183.2_Missense_Mutation_p.E235Q|ARMC10_ENST00000441711.2_Missense_Mutation_p.E259Q|ARMC10_ENST00000541300.1_Missense_Mutation_p.E176Q	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	294					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCAAAATAGAAGGCCATTT	0.393000													7	90					0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73184119	73184119	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:73184119G>A	ENST00000395145.2	-	1	481	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	87					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGGCCAGCAGGATGGCCACCA	0.672000													13	20					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95772194	95772194	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:95772194C>G	ENST00000272418.2	-	6	854	c.646G>C	c.(646-648)Gag>Cag	p.E216Q		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	216					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCAAAATCCTCATATGTTTCT	0.438000													8	51					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2744064	2744064	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:2744064G>T	ENST00000510267.1	-	6	1316	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	TNIP2_ENST00000315423.7_Missense_Mutation_p.Q404K|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q321K	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	404						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)		TGAGGGCACTGAAGGTCCCCC	0.677000													6	15					0.000157383	0.000160364	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61987371	61987371	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:61987371C>G	ENST00000409186.1	-	5	2966	c.861G>C	c.(859-861)gtG>gtC	p.V287V	PCDH20_ENST00000409204.4_Silent_p.V287V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	260	Cadherin 2.				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)		TGATGATGCTCACATACTGGT	0.517000													10	44					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958243	34958243	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:34958243G>A	ENST00000250156.7	+	1	243	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	2					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTGCGCCATGGCATTGCTCTC	0.706000													7	36					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968496	69968496	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:69968496G>C	ENST00000299293.2	+	10	1798	c.1288G>C	c.(1288-1290)Gaa>Caa	p.E430Q	FRS2_ENST00000397997.2_Missense_Mutation_p.E430Q|FRS2_ENST00000550389.1_Missense_Mutation_p.E430Q|FRS2_ENST00000549921.1_Missense_Mutation_p.E430Q	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	430					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCCAAGTTTAGAACACAGGCA	0.453000													6	37					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8587285	8587285	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:8587285C>T	ENST00000338257.8	-	27	3463	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1066	SH3.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCAATGACCTCGTTCACGTTG	0.627000													13	34					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11190601	11190601	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:11190601C>G	ENST00000361445.4	-	39	5674	c.5598G>C	c.(5596-5598)caG>caC	p.Q1866H	MTOR_ENST00000376838.1_Missense_Mutation_p.Q71H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1866	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGACCTTCTTCTGCAGCGGCG	0.572000													10	38					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117896444	117896444	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:117896444C>G	ENST00000535237.1	-	4	775	c.546G>C	c.(544-546)ttG>ttC	p.L182F	GOPC_ENST00000368498.2_Missense_Mutation_p.L182F|GOPC_ENST00000052569.6_Missense_Mutation_p.L174F					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCTCTTTTCTCAACAATTTCA	0.378000			O	ROS1	glioblastoma								14	55					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86278844	86278844	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:86278844G>A	ENST00000394518.2	+	32	7590	c.7495G>A	c.(7495-7497)Gat>Aat	p.D2499N	AKAP13_ENST00000361243.2_Missense_Mutation_p.D2503N|AKAP13_ENST00000394510.2_Missense_Mutation_p.D744N|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2499	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACGGAATCAGATAGTGGCCT	0.358000													10	49					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67809586	67809586	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:67809586G>A	ENST00000255674.6	-	19	2805	c.2519C>T	c.(2518-2520)tCa>tTa	p.S840L	RTTN_ENST00000454359.1_Missense_Mutation_p.S840L|RTTN_ENST00000437017.1_Missense_Mutation_p.S840L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	840							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AACATCATCTGAGGTGAAGAT	0.343000													3	33					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4718285	4718285	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:4718285C>T	ENST00000399577.5	+	8	791	c.698C>T	c.(697-699)tCt>tTt	p.S233F	MGRN1_ENST00000262370.7_Missense_Mutation_p.S233F|MGRN1_ENST00000586183.1_Missense_Mutation_p.S233F|MGRN1_ENST00000588994.1_Missense_Mutation_p.S233F|MGRN1_ENST00000415496.1_Missense_Mutation_p.S234F	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	233					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S233F(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GGCAGCTTCTCTGTGAAGCCT	0.498000													19	46					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125369373	125369373	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:125369373G>A	ENST00000275184.6	+	1	16	c.16G>A	c.(16-18)Gag>Aag	p.E6K	RNF217_ENST00000521654.2_Intron|RNF217_ENST00000560949.1_Intron|RNF217_ENST00000359704.2_Intron|RNF217_ENST00000368414.2_Intron			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ACCCTGTACTGAGACTAAGAT	0.393000													4	9					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111632326	111632326	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:111632326C>G	ENST00000435970.1	-	31	9323	c.8507G>C	c.(8506-8508)aGa>aCa	p.R2836T	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.R2914T|REV3L_ENST00000368805.1_Missense_Mutation_p.R2914T|REV3L_ENST00000358835.3_Missense_Mutation_p.R2914T|REV3L_ENST00000462119.1_5'UTR			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2914					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)		AAAACTTCCTCTGTATTCCTT	0.413000								DNA polymerases (catalytic subunits)					20	160					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33422418	33422418	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:33422418C>G	ENST00000305768.5	-	9	1034	c.946G>C	c.(946-948)Gat>Cat	p.D316H	CEP89_ENST00000590597.2_Missense_Mutation_p.D316H	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTCAATCCATCATTTTCATCC	0.348000													17	36					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200958018	200958018	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:200958018C>T	ENST00000332129.2	-	22	3490	c.3174G>A	c.(3172-3174)ttG>ttA	p.L1058L	KIF21B_ENST00000422435.2_Silent_p.L1058L|KIF21B_ENST00000461742.2_Silent_p.L1058L|KIF21B_ENST00000360529.5_Silent_p.L1058L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1058					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCGGCCCTCCAACAGCCGGA	0.627000													5	21					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235920751	235920751	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:235920751C>T	ENST00000389794.3	-	24	7063	c.6889G>A	c.(6889-6891)Gaa>Aaa	p.E2297K	LYST_ENST00000389793.2_Missense_Mutation_p.E2297K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2297					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)			AAACAGTCTTCAGTTACACTA	0.368000													9	58					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	322194	322194	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:322194G>A	ENST00000390665.3	-	2	474	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	152					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAACCGGGCGAAGGTGCTCT	0.642000													9	76					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358842	39358842	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:39358842G>C	ENST00000280481.7	+	6	6132	c.5916G>C	c.(5914-5916)gaG>gaC	p.E1972D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1972	Calx-beta 2.		E -> K (in FRASS; may impair calcium- binding in the 2nd Calx-beta domain).		cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGTACGAGGAGGAGGAAA	0.493000													14	41					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126144827	126144827	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:126144827G>C	ENST00000373624.2	-	22	2115	c.1914C>G	c.(1912-1914)ctC>ctG	p.L638L	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.L649L|DENND1A_ENST00000542603.1_Silent_p.L423L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	638						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCAGGCTCCAGAGCTTGTTGT	0.667000													29	35					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665955	8665955	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:8665955C>A	ENST00000270328.4	-	5	933	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.E223*			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	223					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCTCTGTTTCATTCCCCAGG	0.617000													14	50					1.05317e-09	1.10021e-09	1	1	0
YEATS2	55689	broad.mit.edu	37	3	183515778	183515778	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:183515778C>G	ENST00000305135.5	+	22	3360	c.3165C>G	c.(3163-3165)ctC>ctG	p.L1055L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1055					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)			CCAGCCAGCTCAAACCACTCA	0.527000													5	70					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74772611	74772611	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:74772611C>T	ENST00000588460.1	+	12	3215	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	MFSD11_ENST00000586622.1_Silent_p.F391F|MFSD11_ENST00000593181.1_Silent_p.F339F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Silent_p.F391F|MFSD11_ENST00000590514.1_Silent_p.F391F|MFSD11_ENST00000355954.3_Silent_p.F339F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	391						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTGCCATCTTCAAGTTTGTTC	0.438000													63	120					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42303748	42303748	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:42303748G>A	ENST00000379310.3	-	23	2636	c.2568C>T	c.(2566-2568)gtC>gtT	p.V856V	VWA8_ENST00000281496.6_Silent_p.V856V	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		AAATACACGTGACATTTGTTG	0.338000													33	81					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131482819	131482819	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:131482819C>T	ENST00000291906.4	+	22	2997	c.2604C>T	c.(2602-2604)ctC>ctT	p.L868L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	868	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACAGCCTCCTCACTGCCCGCC	0.657000													18	37					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79684042	79684042	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:79684042G>A	ENST00000331531.5	+	7	594	c.474G>A	c.(472-474)agG>agA	p.R158R	SLC25A10_ENST00000350690.5_Silent_p.R158R|SLC25A10_ENST00000545862.1_Silent_p.R115R|SLC25A10_ENST00000571730.1_Silent_p.R313R|SLC25A10_ENST00000541223.1_Silent_p.R313R	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	158					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGGGTCTCAGGAGACTGTTCT	0.647000													5	22					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67965093	67965093	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:67965093G>A	ENST00000574481.1	-	2	625	c.64C>T	c.(64-66)Cct>Tct	p.P22S	CTRL_ENST00000576408.1_Intron|CTC-479C5.12_ENST00000573493.1_Intron	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	22					digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TTGATGGCAGGAATGCCGCAG	0.612000													10	21					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160001330	160001330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:160001330G>T	ENST00000368090.2	-	1	453	c.200C>A	c.(199-201)tCg>tAg	p.S67*		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	67					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGTAAGGCGAGCGCCCCTC	0.592000													23	37					1.10923e-09	1.15652e-09	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27829628	27829628	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:27829628G>C	ENST00000261716.3	+	13	1744	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E409Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	409					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTACAGAGAAGAGGGAGATCC	0.353000													10	32					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982262	61982262	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:61982262G>A	ENST00000370263.4	-	5	722	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	167					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGAAGGGGAAGAAGGTGACGT	0.607000													25	81					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143905	55143905	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:55143905C>G	ENST00000491143.2	+	2	1497	c.1465C>G	c.(1465-1467)Ctg>Gtg	p.L489V		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	489					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAAGACGATCTGAGCACAGG	0.577000													10	22					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10070396	10070396	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:10070396G>T	ENST00000287647.3	+	2	148	c.55G>T	c.(55-57)Gat>Tat	p.D19Y	FANCD2_ENST00000431693.1_Missense_Mutation_p.D19Y|FANCD2_ENST00000383806.1_Missense_Mutation_p.D19Y|FANCD2_ENST00000419585.1_Missense_Mutation_p.D19Y|FANCD2_ENST00000383807.1_Missense_Mutation_p.D19Y	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	19	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTGACAGAAGATGCCTCCAG	0.383000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	52					0.335167	0.335167	1	1	0
FABP9	646480	broad.mit.edu	37	8	82370865	82370865	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:82370865C>G	ENST00000379071.2	-	3	375	c.320G>C	c.(319-321)aGa>aCa	p.R107T	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	107							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CACAATTTTTCTTTTGATTGT	0.308000													19	34					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589070	140589070	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:140589070C>G	ENST00000239450.2	+	1	780	c.591C>G	c.(589-591)gaC>gaG	p.D197E	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		197	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGTTCTGGACAAGGCGCTGG	0.488000													32	25					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104816706	104816706	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:104816706C>T	ENST00000369878.4	+	4	2246	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	CNNM2_ENST00000433628.2_Silent_p.F686F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TAGACTACTTCGTTCTCATTC	0.438000													24	121					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212251832	212251832	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:212251832C>T	ENST00000342788.4	-	27	3537	c.3227G>A	c.(3226-3228)gGa>gAa	p.G1076E	ERBB4_ENST00000402597.1_Missense_Mutation_p.G1066E|ERBB4_ENST00000436443.1_Missense_Mutation_p.G1060E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1076					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.G1076E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACAGACACTCCTTGTTCAGC	0.443000										TSP Lung(8;0.080)			12	59					0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647328	32647328	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:32647328C>T	ENST00000394620.1	+	2	583	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	39					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TTAACGTGATCAATAGGAAAA	0.438000													15	40					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75290072	75290072	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:75290072G>A	ENST00000339859.4	-	13	1757	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.R553C|USP54_ENST00000428547.1_Missense_Mutation_p.R403C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.R553C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	553					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCCCAGTCACGAGAGTGTAAA	0.502000													26	76					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62162198	62162198	+	Silent	SNP	C	C	T	rs145525201		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:62162198C>T	ENST00000217185.2	-	6	942	c.915G>A	c.(913-915)tcG>tcA	p.S305S	PTK6_ENST00000542869.1_Silent_p.S204S	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	305	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGTAATTCTGCGACTCCAGGT	0.587000													7	38					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010559	59010559	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:59010559C>T	ENST00000263093.2	-	8	1805	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	SLC27A5_ENST00000601355.1_Missense_Mutation_p.E482K|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	566					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCCTCCACCTCGTGCGTGGAC	0.632000													9	30					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112341725	112341725	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:112341725G>C	ENST00000361804.4	+	9	718	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	198					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATACATTGAAGAGAGATTACA	0.353000													38	80					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112443383	112443383	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:112443383G>C	ENST00000230538.7	-	32	4706	c.4309C>G	c.(4309-4311)Cct>Gct	p.P1437A	LAMA4_ENST00000424408.2_Missense_Mutation_p.P1430A|LAMA4_ENST00000389463.4_Missense_Mutation_p.P1430A|LAMA4_ENST00000522006.1_Missense_Mutation_p.P1430A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1437					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCCATGAAGGTGCATCTTTA	0.413000													18	48					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74422024	74422024	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:74422024G>A	ENST00000376332.3	-	4	798	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CHRDL2_ENST00000263671.5_Missense_Mutation_p.P101L|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	101					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAGTCCAGAGGGAGTGTGAGG	0.537000													3	31					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150235593	150235593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:150235593G>T	ENST00000369111.4	+	7	1685	c.715G>T	c.(715-717)Gaa>Taa	p.E239*		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	239						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATTTCAATGGAACAGGTAAG	0.522000													20	89					1.01871e-10	1.06836e-10	1	1	0
NFIC	4782	broad.mit.edu	37	19	3452638	3452638	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:3452638G>A	ENST00000589123.1	+	8	1336	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	NFIC_ENST00000443272.2_Missense_Mutation_p.D415N|NFIC_ENST00000346156.5_Missense_Mutation_p.D382N|NFIC_ENST00000395111.3_Missense_Mutation_p.D406N|NFIC_ENST00000590282.1_Missense_Mutation_p.D415N|NFIC_ENST00000341919.3_Missense_Mutation_p.D415N|NFIC_ENST00000586919.1_Missense_Mutation_p.D382N	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	415					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCTGGCCTGCGACCCAGCCAG	0.682000													21	150					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560490	32560490	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:32560490G>A	ENST00000427288.1	+	8	1168	c.688G>A	c.(688-690)Gac>Aac	p.D230N	TMEM39B_ENST00000373634.4_Missense_Mutation_p.D146N|TMEM39B_ENST00000336294.5_Missense_Mutation_p.D345N|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_3'UTR			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	345						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGCTACTGTGACCTGCTGCA	0.607000													11	45					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73142264	73142264	+	Silent	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:73142264T>C	ENST00000545377.1	+	12	1775	c.1599T>C	c.(1597-1599)gcT>gcC	p.A533A	ARHGEF28_ENST00000437974.1_Silent_p.A533A|ARHGEF28_ENST00000296799.4_Silent_p.A220A|ARHGEF28_ENST00000426542.2_Silent_p.A533A|ARHGEF28_ENST00000513042.2_Silent_p.A533A|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296794.6_Silent_p.A533A|ARHGEF28_ENST00000287898.5_Silent_p.A533A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TCTCCAGGGCTGAATCCCTTC	0.418000													4	42					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25969102	25969102	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:25969102C>T	ENST00000356865.6	-	6	1157	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	349					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TAAGGAGCTTCCATCAGACTT	0.373000													26	57					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													6	53					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52553378	52553378	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:52553378C>T	ENST00000321725.6	+	49	5209	c.5133C>T	c.(5131-5133)ccC>ccT	p.P1711P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1711					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGCTGCCCCCCGAGGCGCTGC	0.637000													24	132					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2328306	2328306	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:2328306G>A	ENST00000301732.5	-	30	5401	c.4701C>T	c.(4699-4701)atC>atT	p.I1567I	ABCA3_ENST00000382381.3_Silent_p.I1509I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1567	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGTGATGATGATGGCCTTGC	0.642000													23	41					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871618	149871618	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:149871618G>A	ENST00000369153.2	+	3	670	c.6G>A	c.(4-6)ctG>ctA	p.L2L	BOLA1_ENST00000369152.5_Silent_p.L2L|BOLA1_ENST00000369150.1_Silent_p.L2L|BOLA1_ENST00000476344.1_Intron			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	2						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCCCATGCTGAGTGGGCGGC	0.687000													9	45					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11533470	11533470	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:11533470C>G	ENST00000356392.4	-	9	1263	c.1176G>C	c.(1174-1176)aaG>aaC	p.K392N	CCDC151_ENST00000591179.1_Missense_Mutation_p.K332N|CCDC151_ENST00000586836.1_Missense_Mutation_p.K201N|CCDC151_ENST00000545100.1_Missense_Mutation_p.K338N	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	392										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CGTTCTCGCTCTTGAGCGTCT	0.647000													5	31					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18259470	18259470	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:18259470G>C	ENST00000251900.4	-	15	2163	c.2004C>G	c.(2002-2004)ctC>ctG	p.L668L	SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	668	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CATCACTCTTGAGTAGGAACA	0.343000													17	54					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903739	90903739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:90903739C>T	ENST00000354377.3	+	4	862	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATCAAACATCAGAGAACCCA	0.517000													11	55					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96116562	96116562	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:96116562C>T	ENST00000278520.5	-	4	1290	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E288K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E288K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	288							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		tctccatcttcatcagattca	0.348000													17	18					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30878929	30878929	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:30878929G>C	ENST00000251071.5	-	9	2626	c.1876C>G	c.(1876-1878)Cag>Gag	p.Q626E	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q293E|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Q626E|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q626E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q626E	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	626					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTGAATCTGAGTCATCAGA	0.398000													33	51					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110567253	110567253	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:110567253G>A	ENST00000338882.4	-	5	996	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	333						extracellular region											TTGTAACTGTGAAAAAGCCTG	0.428000													12	83					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113354534	113354534	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:113354534C>T	ENST00000452357.2	+	4	1065	c.875C>T	c.(874-876)aCg>aTg	p.T292M	OAS1_ENST00000445409.2_Missense_Mutation_p.T292M|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.T292M|OAS1_ENST00000202917.5_Missense_Mutation_p.T292M	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	292					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AGGCAGCTCACGAAACCCAGG	0.448000													15	49					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20552067	20552067	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:20552067G>A	ENST00000329697.6	-	13	1706	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	ACSM2B_ENST00000565322.1_Missense_Mutation_p.S434L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S513L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S513L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	513					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.S513L(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TAGGAACTGCGAGGCCAGGAT	0.478000													4	144					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266470	67266470	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:67266470G>A	ENST00000356404.3	-	9	1399	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	PITPNM1_ENST00000534749.1_Missense_Mutation_p.P392S|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P392S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	392					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCGGCTCCAGGCTCTGCAGGG	0.622000													8	33					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143324151	143324151	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:143324151G>C	ENST00000513000.1	-	8	745	c.312C>G	c.(310-312)atC>atG	p.I104M	INPP4B_ENST00000308502.4_Missense_Mutation_p.I104M|INPP4B_ENST00000506217.1_Missense_Mutation_p.I104M|INPP4B_ENST00000509777.1_Missense_Mutation_p.I104M|INPP4B_ENST00000508116.1_Missense_Mutation_p.I104M|INPP4B_ENST00000262992.4_Missense_Mutation_p.I104M	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	104	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCCTCATAGATGGGATACT	0.403000													15	61					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99038473	99038473	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:99038473C>G	ENST00000299157.4	-	1	380	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	IKBIP_ENST00000420861.1_5'UTR|IKBIP_ENST00000342502.2_Missense_Mutation_p.E3Q|IKBIP_ENST00000393042.3_Missense_Mutation_p.E3Q	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	3					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTCTTCACCTCAGACATGTCT	0.697000													6	19					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034044	30034044	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:30034044G>C	ENST00000328224.6	-	2	1415	c.182C>G	c.(181-183)tCc>tGc	p.S61C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	61						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S61F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTGGTGGTGGGAGCCCCCACC	0.662000													29	32					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2308867	2308867	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:2308867C>T	ENST00000381458.5	+	9	1252	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	397					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R397S(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAATGCCGACCGCATCACCTG	0.562000													6	69					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63217961	63217961	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:63217961G>C	ENST00000263991.5	+	18	3414	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	EHBP1_ENST00000354487.3_Missense_Mutation_p.E943Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.E943Q|EHBP1_ENST00000431489.1_Missense_Mutation_p.E907Q|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.E907Q	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	978						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAGCTCAGAGCAGGACAT	0.418000													9	55					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	571558	571558	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:571558C>G	ENST00000346916.4	+	1	262	c.11C>G	c.(10-12)tCg>tGg	p.S4W	AC009005.2_ENST00000588908.1_RNA|AC009005.2_ENST00000589457.1_RNA|BSG_ENST00000545507.2_5'UTR|AC009005.2_ENST00000590292.1_RNA|AC009005.2_ENST00000588290.1_RNA	NM_198591.2	NP_940993.1	P35613	BASI_HUMAN	basigin	180					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		atgaagcagtcggacgcgtct	0.602000													11	36					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785590	1785590	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:1785590G>A	ENST00000539485.1	-	26	3534	c.3301C>T	c.(3301-3303)Ctg>Ttg	p.L1101L	ATP8B3_ENST00000310127.6_Silent_p.L1091L|ATP8B3_ENST00000525591.1_Silent_p.L1054L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1091					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTTGACCAGAGAGGTGGTC	0.612000													17	34					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648248	6648248	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:6648248G>C	ENST00000377674.4	+	8	1666	c.1508G>C	c.(1507-1509)cGa>cCa	p.R503P		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	503						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAGACCTTCCGAACCCAAGGT	0.632000													6	31					0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874290	31874290	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:31874290C>T	ENST00000334151.2	-	1	145	c.119G>A	c.(118-120)gGc>gAc	p.G40D		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	40						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCCTCCGTAGCCACCGCCATA	0.567000													18	136					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555578	155555578	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:155555578C>T	ENST00000295101.2	+	1	768	c.291C>T	c.(289-291)ttC>ttT	p.F97F	KCNJ3_ENST00000544049.1_Silent_p.F97F	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	97					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)	CCTGGCTTTTCATGGCGTCCA	0.572000													14	48					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9091998	9091998	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:9091998C>G	ENST00000433083.2	+	14	2968	c.2823C>G	c.(2821-2823)atC>atG	p.I941M	PHC1_ENST00000544916.1_Missense_Mutation_p.I986M|PHC1_ENST00000543824.1_Missense_Mutation_p.I986M|PHC1_ENST00000536844.1_Missense_Mutation_p.I592M			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	986	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCATGAACATCAAGCTGGGCC	0.488000													11	35					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33137446	33137446	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:33137446C>G	ENST00000306065.4	-	4	447	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	ANKRD27_ENST00000587352.1_Missense_Mutation_p.E97Q	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	97					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AAAGTTTCTTCAAAGAGAATG	0.408000													25	44					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141551359	141551359	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:141551359G>A	ENST00000220592.5	-	15	2050	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	AGO2_ENST00000519980.1_Silent_p.V646V	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GGAGCTCGCGGACCATGGCGG	0.632000													3	11					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38695943	38695943	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:38695943C>T	ENST00000396832.1	-	6	953	c.693G>A	c.(691-693)aaG>aaA	p.K231K	CSNK1E_ENST00000359867.3_Silent_p.K231K|CSNK1E_ENST00000405675.3_Silent_p.K231K|CSNK1E_ENST00000403904.1_Silent_p.K231K|CSNK1E_ENST00000413574.2_Silent_p.K231K|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Silent_p.K231K	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	231	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TTGACATCTTCTTCTCGCTGA	0.607000													27	111					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361368	105361368	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:105361368C>T	ENST00000297581.2	+	2	637	c.588C>T	c.(586-588)gtC>gtT	p.V196V	DCSTAMP_ENST00000517991.1_Silent_p.V196V|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	196					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCCTGAGCGTCTTGTACCAGA	0.547000													38	91					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68736324	68736324	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:68736324G>C	ENST00000325631.5	+	6	1625	c.1551G>C	c.(1549-1551)aaG>aaC	p.K517N	MARVELD2_ENST00000413223.2_Missense_Mutation_p.K401N	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	517	Poly-Lys.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGAAAAAAAAGAATGTGAGTA	0.264000													24	25					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643848	186643848	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:186643848G>C	ENST00000367468.5	-	10	1588	c.1452C>G	c.(1450-1452)atC>atG	p.I484M	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	484					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CCACAGCATCGATGTCACCAT	0.458000													345	70					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874176	151874176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:151874176G>A	ENST00000355193.2	-	38	8580	c.8362C>T	c.(8362-8364)Cag>Tag	p.Q2788*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2788*					lysine (K)-specific methyltransferase 2C																		GATACACACTGATTATCTAAC	0.338000													33	65					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19930021	19930021	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:19930021G>A	ENST00000295824.9	-	10	2009	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	EFHB_ENST00000344838.4_Silent_p.F486F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	616	EF-hand 2.				signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GATAGTTAATGAAGCCATCAT	0.378000													5	10					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103279025	103279025	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:103279025G>A	ENST00000374879.4	+	5	964	c.532G>A	c.(532-534)Gag>Aag	p.E178K	MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.*141*|TMEFF1_ENST00000334943.6_Missense_Mutation_p.E139K	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				ATATAAAGCTGAGTGTGATGA	0.383000													18	26					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56125778	56125778	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:56125778C>T	ENST00000275603.4	+	6	926	c.707C>T	c.(706-708)tCa>tTa	p.S236L	CCT6A_ENST00000335503.3_Missense_Mutation_p.S191L|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205L	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	236					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAACGTGTCATTAGAGTAT	0.408000													10	36					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242496	4242496	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:4242496G>A	ENST00000399609.3	-	6	1092	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	SRL_ENST00000537996.1_Silent_p.F318F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	819	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CATCACTGAAGAAGGTCATTT	0.488000													32	96					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123008685	123008685	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:123008685G>C	ENST00000462833.1	-	19	4656	c.3444C>G	c.(3442-3444)atC>atG	p.I1148M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I798M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I806M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1148	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGTGCCTTGATGTGGGTCT	0.552000													63	70					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67293582	67293582	+	Silent	SNP	G	G	A	rs151194061		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:67293582G>A	ENST00000371026.3	-	14	2080	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	WDR78_ENST00000431318.1_Intron|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	675										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGCCAAATAGATATTTGTGT	0.308000													39	151					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43445631	43445631	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:43445631C>G	ENST00000282041.5	-	39	6749	c.6715G>C	c.(6715-6717)Gaa>Caa	p.E2239Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2239					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						ATTTCCTGTTCTAGGACTGCT	0.438000													38	83					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129148844	129148844	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:129148844C>T	ENST00000361171.3	+	4	397	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	MVB12B_ENST00000545391.1_Missense_Mutation_p.H106Y|MVB12B_ENST00000535766.1_Missense_Mutation_p.H99Y|MVB12B_ENST00000436593.3_Missense_Mutation_p.H91Y	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		TCCCAAGAGTCATCTGGGGAA	0.443000													27	15					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769250	31769250	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:31769250C>G	ENST00000240587.4	-	2	1776	c.1449G>C	c.(1447-1449)gaG>gaC	p.E483D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	483					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCTTAGGTTTCTCGTCAGTGA	0.478000													64	219					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	77					0	0	1	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956914	45956914	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:45956914C>G	ENST00000275521.6	-	2	661	c.528G>C	c.(526-528)aaG>aaC	p.K176N	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.K182N|IGFBP3_ENST00000381086.5_Missense_Mutation_p.K79N	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	176					negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CATGCCCTTTCTTGATGATGA	0.552000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	87					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16250072	16250072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:16250072C>A	ENST00000339732.5	+	4	1477	c.974C>A	c.(973-975)tCa>tAa	p.S325*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.S325*	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TATTACCCCTCAAAGGACCTG	0.522000													45	83					6.1207e-33	6.54659e-33	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132166763	132166763	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:132166763G>A	ENST00000260818.6	+	5	564	c.316G>A	c.(316-318)Gag>Aag	p.E106K	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	106							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGATTTTTCAGAGGGAAAAAT	0.318000													20	114					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170592181	170592181	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:170592181C>G	ENST00000392647.2	+	2	901	c.657C>G	c.(655-657)ctC>ctG	p.L219L	KLHL23_ENST00000272797.4_Silent_p.L219L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	219	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTGAATGCCTCTATAATCTAC	0.383000													16	33					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41362667	41362667	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:41362667C>T	ENST00000361937.3	-	13	2108	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	INO80_ENST00000401393.3_Missense_Mutation_p.E562K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	562	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTACCCACCTCAGCCAGATGG	0.408000													13	50					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239025622	239025622	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:239025622G>A	ENST00000343063.3	+	5	1197	c.934G>A	c.(934-936)Gag>Aag	p.E312K	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	312										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGACCTGGCGGAGTACCATGG	0.677000													4	17					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72700197	72700197	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:72700197G>C	ENST00000341689.3	+	5	839	c.785G>C	c.(784-786)aGa>aCa	p.R262T	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	262						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTAAGTGTGAGAGAGAAAAAT	0.458000													9	52					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56488222	56488222	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:56488222G>C	ENST00000267101.3	+	15	2181	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	ERBB3_ENST00000415288.2_Missense_Mutation_p.D522H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	581					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			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCATTTTCGAGATGGGCCCCA	0.532000													19	67					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505122	151505122	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:151505122G>A	ENST00000317605.4	+	1	2046	c.941G>A	c.(940-942)cGc>cAc	p.R314H	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	314					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CTGCAGTGCCGCCGCTGCCCT	0.642000													11	27					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086612	160086612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:160086612C>T	ENST00000263635.6	+	27	4912	c.4675C>T	c.(4675-4677)Cag>Tag	p.Q1559*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Q1453*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1559						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GATCTCTTCTCAGAACCCTCC	0.557000													9	69					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122552163	122552163	+	Splice_Site	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:122552163G>C	ENST00000261038.5	+	4	1101		c.e4-1			NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2						transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TTTTCTTTCAGAATTTGGAGT	0.418000													95	150					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818872	166818872	+	Silent	SNP	G	G	A	rs143821995	byFrequency	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:166818872G>A	ENST00000367875.1	+	5	1416	c.1056G>A	c.(1054-1056)gcG>gcA	p.A352A	POGK_ENST00000537173.1_Silent_p.A234A|POGK_ENST00000536514.1_Silent_p.A267A|POGK_ENST00000367876.4_Silent_p.A352A			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	352					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TGCGCAGGGCGCATGACTATG	0.557000													4	250					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719746	57719746	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:57719746C>G	ENST00000333493.4	+	11	1609	c.1448C>G	c.(1447-1449)tCg>tGg	p.S483W	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.S363W|GPR97_ENST00000327655.6_Missense_Mutation_p.S273W	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGCCTCTCGAGCCTGGTG	0.607000													18	46					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136708386	136708386	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:136708386G>C	ENST00000329582.4	+	4	759	c.510G>C	c.(508-510)tgG>tgC	p.W170C	IL20RB_ENST00000309741.5_Missense_Mutation_p.W123C	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	170	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGCCTACTGGAGGAGGGAGC	0.582000													24	42					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768973	122768973	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:122768973G>A	ENST00000194130.2	-	10	1098	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	353						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTATAATGAAGAGGACCAAGG	0.408000													7	33					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519788	58519788	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:58519788G>C	ENST00000302819.5	-	4	699	c.408C>G	c.(406-408)gcC>gcG	p.A136A	ACOX2_ENST00000459701.2_Silent_p.A136A	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	136					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGTCCCATTTGGCAATCTGCT	0.527000													38	113					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412801	43412801	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43412801C>T	ENST00000310826.5	-	3	1587	c.1404G>A	c.(1402-1404)ctG>ctA	p.L468L	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.L468L|ZBTB21_ENST00000398511.3_Silent_p.L468L|ZBTB21_ENST00000398505.3_Silent_p.L468L	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTTCTGTTTTCAGAGACAGGT	0.527000													20	80					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11115981	11115981	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:11115981C>G	ENST00000376957.2	-	6	702	c.622G>C	c.(622-624)Gag>Cag	p.E208Q		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	208					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	CACTGGCACTCGCCTGGGGGC	0.682000													8	7					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81372765	81372765	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:81372765C>T	ENST00000222390.5	-	7	995	c.769G>A	c.(769-771)Gat>Aat	p.D257N	HGF_ENST00000444829.2_Missense_Mutation_p.D257N|HGF_ENST00000453411.1_Missense_Mutation_p.D252N|HGF_ENST00000457544.2_Missense_Mutation_p.D252N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	257	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAATAATTATCATCAAAGCCC	0.488000													12	33					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968430	69968430	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:69968430G>C	ENST00000299293.2	+	10	1732	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	FRS2_ENST00000397997.2_Missense_Mutation_p.E408Q|FRS2_ENST00000550389.1_Missense_Mutation_p.E408Q|FRS2_ENST00000549921.1_Missense_Mutation_p.E408Q	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	408					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.E408Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCACAAAATAGAATATTCAAG	0.388000													10	38					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400847	49400847	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:49400847G>C	ENST00000374201.3	-	16	2347	c.2045C>G	c.(2044-2046)tCa>tGa	p.S682*	FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.S657*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.S650*	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	682					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCGTTTTCTGAGCATGACAA	0.493000													24	73					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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)			18	27					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697331	99697331	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:99697331C>G	ENST00000303887.5	-	3	802	c.157G>C	c.(157-159)Gac>Cac	p.D53H	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D53H	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	53					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCTACGTCGTCCAGGTCCACA	0.562000													33	76					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763275	102763275	+	Silent	SNP	G	G	A	rs151215972		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:102763275G>A	ENST00000370220.1	+	2	3483	c.420G>A	c.(418-420)aaG>aaA	p.K140K	LZTS2_ENST00000370223.3_Silent_p.K140K			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	140	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ACATGGAGAAGATCCTGATCC	0.602000													33	86					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984802	118984802	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:118984802C>G	ENST00000336702.3	+	13	1998	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	C2CD2L_ENST00000528586.1_Missense_Mutation_p.Q294E	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	546						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCCCATTGCTCAGGACGAGTT	0.622000													56	62					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662285	227662285	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:227662285G>A	ENST00000305123.5	-	1	2190	c.1170C>T	c.(1168-1170)gtC>gtT	p.V390V		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.V390V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACGACAGACTGACCGGGCTGG	0.682000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57281431	57281431	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:57281431C>G	ENST00000288266.3	+	9	777	c.630C>G	c.(628-630)ttC>ttG	p.F210L		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	210	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)		AGATAAGTTTCTTTAAGATGG	0.308000													14	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648835	179648835	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:179648835C>T	ENST00000589042.1	-	16	2961	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	TTN_ENST00000591111.1_Missense_Mutation_p.E913K|TTN_ENST00000360870.5_Missense_Mutation_p.E913K|TTN_ENST00000359218.5_Missense_Mutation_p.E867K|TTN_ENST00000460472.2_Missense_Mutation_p.E867K|TTN_ENST00000342175.6_Missense_Mutation_p.E867K|TTN_ENST00000342992.6_Missense_Mutation_p.E913K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	913							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)			AAGCGCTCTTCACGGACGGTG	0.552000													33	48					0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950605	26950605	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:26950605C>T	ENST00000302909.3	+	2	479	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	118					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGGCATCCCGCTCACGC	0.642000													42	64					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29391520	29391520	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:29391520C>T	ENST00000343067.4	+	16	2161	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	EPB41_ENST00000373798.1_Silent_p.I678I|EPB41_ENST00000398863.2_Silent_p.I624I|EPB41_ENST00000373800.3_Silent_p.I436I|EPB41_ENST00000347529.3_Silent_p.I589I|EPB41_ENST00000349460.4_Silent_p.I455I|EPB41_ENST00000373797.1_Silent_p.I664I|EPB41_ENST00000356093.2_Silent_p.I645I	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	678	Spectrin--actin-binding.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGGAGATCAAAAAACATC	0.423000													19	35					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117870633	117870633	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:117870633C>T	ENST00000297338.2	-	5	726	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	147					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCAACTTCTTCTCTCATGGTT	0.323000													19	60					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205033502	205033502	+	Silent	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:205033502C>A	ENST00000331830.4	+	11	1577	c.1293C>A	c.(1291-1293)gcC>gcA	p.A431A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	431	Ig-like C2-type 5.				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)			TCCCCGCGGCCCGCGGGGGAG	0.607000													59	132					1.95512e-22	2.08701e-22	1	1	0
USP33	23032	broad.mit.edu	37	1	78204948	78204948	+	Splice_Site	SNP	A	A	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:78204948A>G	ENST00000370793.1	-	6	791		c.e6+1		USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370792.3_Splice_Site|USP33_ENST00000370794.3_Splice_Site	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTAGATTATTACCTGGACACT	0.363000													23	77					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101252921	101252921	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:101252921G>A	ENST00000388798.2	+	18	2762	c.2571G>A	c.(2569-2571)ctG>ctA	p.L857L	SPAG1_ENST00000251809.3_Silent_p.L857L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	857					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)		TTCAGTCTCTGAAAAATAATC	0.358000													7	56					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				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						ggaatggaatcgaatcgaatc	0.373000													2	2					0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	97999220	97999220	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:97999220C>T	ENST00000345429.6	+	5	1484	c.703C>T	c.(703-705)Cac>Tac	p.H235Y	MBNL2_ENST00000397601.1_Missense_Mutation_p.H235Y|MBNL2_ENST00000376673.3_Missense_Mutation_p.H235Y|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.H235Y	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	235					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CAAATATTTTCACCCTCCTGC	0.562000													19	52					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204423823	204423823	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:204423823G>A	ENST00000367187.3	-	13	2596	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Silent_p.L680L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	680					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGAGGTGGAAGAGGTACTTGG	0.582000													48	90					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665875	8665875	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:8665875C>T	ENST00000270328.4	-	5	1013	c.747G>A	c.(745-747)aaG>aaA	p.K249K	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.K249K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCATCATCTTGTCAGCCA	0.627000													18	70					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555640	102555640	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:102555640C>T	ENST00000251808.3	+	2	530	c.192C>T	c.(190-192)ctC>ctT	p.L64L	GRHL2_ENST00000395927.1_Silent_p.L48L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	64	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGCTGCCCTCGGCCTGCTCT	0.527000													19	49					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753798	38753798	+	Missense_Mutation	SNP	C	C	T	rs147640811		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:38753798C>T	ENST00000449082.2	-	22	3942	c.3943G>A	c.(3943-3945)Gat>Aat	p.D1315N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1315					sensory perception	voltage-gated sodium channel complex		p.D1315N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AACTCTCCATCGGTATAGTTG	0.463000													23	116					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169772311	169772311	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:169772311C>G	ENST00000286031.6	+	5	873	c.173C>G	c.(172-174)aCa>aGa	p.T58R	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Splice_Site_p.T29R|C1orf112_ENST00000456684.1_Splice_Site_p.T116R|C1orf112_ENST00000359326.4_Splice_Site_p.T58R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	58										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)					TATTCACAGACAATGGTGCAG	0.403000													8	24					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72396861	72396861	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:72396861C>G	ENST00000434423.2	+	2	706	c.706C>G	c.(706-708)Cag>Gag	p.Q236E	POM121_ENST00000257622.4_5'UTR|POM121_ENST00000358357.3_5'UTR|POM121_ENST00000395270.1_5'UTR|POM121_ENST00000446813.1_5'UTR			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	236	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCCGATCCATCAGGCCCAGTA	0.502000													3	21					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53254300	53254300	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:53254300C>G	ENST00000354452.3	-	2	659	c.48G>C	c.(46-48)ctG>ctC	p.L16L	TCF4_ENST00000566279.1_Silent_p.L16L|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000564403.2_Silent_p.L16L|TCF4_ENST00000565018.2_Silent_p.L16L|TCF4_ENST00000356073.4_Silent_p.L16L|TCF4_ENST00000564999.1_Silent_p.L16L|TCF4_ENST00000567880.1_Silent_p.L16L|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000398339.1_Silent_p.L118L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	16	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTAAATCACTCAGCTCTTTGT	0.403000													7	40					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74516507	74516507	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr14:74516507C>G	ENST00000394009.3	+	8	1018	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V	CCDC176_ENST00000553773.1_Missense_Mutation_p.L24V|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		GGAGACTGCTCTGAGTTACAT	0.408000													12	26					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001997	27001997	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:27001997C>T	ENST00000314616.6	+	5	638	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R119W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	119	Asp/Glu-rich.				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)					GCAAAAGTACCGGCGTGTCAA	0.478000													11	22					0	0	1	0	0
SPRTN	83932	broad.mit.edu	37	1	231489045	231489045	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:231489045G>A	ENST00000295050.7	+	5	1744	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3			SprT-like N-terminal domain																		TCAGATTAATGAGCACTTGGA	0.413000													9	46					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217863	50217863	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:50217863G>C	ENST00000216267.8	-	1	589	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E	BRD1_ENST00000404760.1_Missense_Mutation_p.Q35E|BRD1_ENST00000404034.1_Missense_Mutation_p.Q35E|BRD1_ENST00000457780.2_Missense_Mutation_p.Q35E	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	35					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTTGAGCTTGAGCGTAGGTC	0.502000													43	86					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2837277	2837277	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:2837277C>G	ENST00000397885.2	-	3	413	c.207G>C	c.(205-207)aaG>aaC	p.K69N		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	69						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GCTGCTTATTCTTGAACTGCT	0.398000													136	104					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85903753	85903753	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:85903753G>A	ENST00000372134.3	+	4	425	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	78					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTCTGCAGTTGATCAGATGGG	0.418000													9	61					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47694615	47694615	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:47694615C>G	ENST00000455779.1	+	23	2245	c.2060C>G	c.(2059-2061)tCa>tGa	p.S687*	PHKB_ENST00000566044.1_Nonsense_Mutation_p.S687*|PHKB_ENST00000323584.5_Nonsense_Mutation_p.S694*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.S694*			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	694					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)				CCCAAACATTCAAAAGTCAAA	0.398000													36	82					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811300	45811300	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:45811300C>T	ENST00000397928.1	+	11	2031	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.S529F|TRPM2_ENST00000300481.9_Missense_Mutation_p.S529F|TRPM2_ENST00000397932.2_Missense_Mutation_p.S529F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	529						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGGACCCCTCCTGCCTGTTC	0.637000													12	106					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6772887	6772887	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:6772887G>C	ENST00000304076.2	+	1	163	c.69G>C	c.(67-69)gtG>gtC	p.V23V	VAV1_ENST00000602142.1_Silent_p.V23V|VAV1_ENST00000596764.1_Silent_p.V23V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	23	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCCACCGCGTGACCTGGGATG	0.667000													21	53					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127318260	127318260	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:127318260G>A	ENST00000265056.7	+	2	350	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	36	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CCGGCGTACTGATGCCCTCAC	0.637000													77	127					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412228	43412228	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43412228C>G	ENST00000310826.5	-	3	2160	c.1977G>C	c.(1975-1977)aaG>aaC	p.K659N	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.K659N|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K659N|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TCAAGTTCCTCTTGATGACTT	0.448000													20	95					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17373641	17373641	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:17373641C>G	ENST00000242057.4	+	7	1454	c.811C>G	c.(811-813)Cca>Gca	p.P271A		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	271					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GATAGCTACTCCACTTCAGCC	0.393000													11	88					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205033503	205033503	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:205033503C>G	ENST00000331830.4	+	11	1578	c.1294C>G	c.(1294-1296)Cgc>Ggc	p.R432G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	432	Ig-like C2-type 5.				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)			CCCCGCGGCCCGCGGGGGAGA	0.607000													61	130					0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95229847	95229847	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:95229847C>A	ENST00000295256.5	-	4	364	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	92	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGAGTGTCCACAATAGCATCA	0.343000													7	57					0.00448238	0.00453293	1	1	0
C1orf87	127795	broad.mit.edu	37	1	60463291	60463291	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:60463291C>G	ENST00000371201.3	-	11	1577	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.L261L|C1orf87_ENST00000395552.1_Silent_p.L124L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	490							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGTGTTACTCAGATCACACA	0.438000													7	52					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19956145	19956145	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:19956145C>T	ENST00000255006.6	+	8	1772	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	492					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGCCCAAGCTCGTCAAGTCCC	0.597000													32	98					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42843855	42843855	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:42843855G>C	ENST00000398585.3	-	10	1124	c.1064C>G	c.(1063-1065)tCt>tGt	p.S355C	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S318C|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.S318C	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	318	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GAACATGAAAGATTGTCTCAA	0.438000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								24	62					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767857	154767857	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:154767857G>A	ENST00000404141.1	-	6	777	c.623C>T	c.(622-624)tCt>tTt	p.S208F	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S208F			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	208					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTCATTCTGAGAAtcttgttc	0.433000													3	7					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16344385	16344385	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:16344385G>C	ENST00000311890.9	-	1	900	c.74C>G	c.(73-75)tCc>tGc	p.S25C	HSPB7_ENST00000487046.1_Missense_Mutation_p.S25C|HSPB7_ENST00000545268.1_Missense_Mutation_p.S25C|HSPB7_ENST00000406363.2_Missense_Mutation_p.S25C|HSPB7_ENST00000411503.1_Missense_Mutation_p.S25C|HSPB7_ENST00000375718.4_Intron	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	25	Poly-Ser.|Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ggaggaggtggaagaggagga	0.637000													4	21					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9107729	9107729	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:9107729T>C	ENST00000377424.4	-	4	537	c.358A>G	c.(358-360)Aga>Gga	p.R120G	SLC2A5_ENST00000535586.1_Missense_Mutation_p.R5G|SLC2A5_ENST00000377414.3_Missense_Mutation_p.R120G|SLC2A5_ENST00000536305.1_Missense_Mutation_p.R61G	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	120					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCGACTCTGCTGCATCCC	0.428000													64	77					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													11	20					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688078	17688078	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:17688078G>A	ENST00000252599.4	+	7	1144	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		GGGCTTCGACGAGGTGAGCTG	0.667000													11	20					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665003	95665003	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:95665003G>A	ENST00000324972.6	+	13	1547	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415I|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415I|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432I|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435I|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435I	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	452					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AACGGGAGACGTCAATAACTT	0.468000													56	141					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24538026	24538026	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:24538026G>C	ENST00000355123.4	-	3	542	c.99C>G	c.(97-99)ctC>ctG	p.L33L	ITSN2_ENST00000361999.3_Silent_p.L33L|ITSN2_ENST00000406921.3_Silent_p.L33L|ITSN2_ENST00000407704.1_5'UTR	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	33	EH 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGGTTTGAGGTTATCAA	0.338000													19	55					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472094	47472094	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:47472094A>G	ENST00000266581.4	-	2	1158	c.692T>C	c.(691-693)gTc>gCc	p.V231A	AMIGO2_ENST00000321382.3_Missense_Mutation_p.V231A|AMIGO2_ENST00000429635.1_Missense_Mutation_p.V231A|AMIGO2_ENST00000550413.1_Missense_Mutation_p.V231A	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	231	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACAGTCACAGACAAATGGGTT	0.443000													5	23					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740069	110740069	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:110740069G>A	ENST00000331565.4	+	11	2148	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	555					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCATGCAGGAGCTGACGGA	0.562000											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	98					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46298716	46298716	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:46298716G>A	ENST00000334344.6	+	21	5535		c.e21-1		ARID2_ENST00000457135.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTTTGCAGATTGTTAAAG	0.328000			"""N, S, F"""		hepatocellular carcinoma								3	31					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104474764	104474764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr14:104474764G>A	ENST00000409874.4	+	20	2115	c.2067G>A	c.(2065-2067)tgG>tgA	p.W689*	TDRD9_ENST00000339063.5_Nonsense_Mutation_p.W689*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	689					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AACTTAATTGGGGACGGTTAA	0.254000													16	33					0	0	1	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122491	32122491	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:32122491C>G	ENST00000422437.1	+	2	311	c.120C>G	c.(118-120)atC>atG	p.I40M	PPT2_ENST00000375143.2_Missense_Mutation_p.I40M|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.I40M|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000324816.6_Missense_Mutation_p.I40M|PPT2_ENST00000361568.2_Missense_Mutation_p.I46M|PPT2_ENST00000375137.2_Missense_Mutation_p.I40M|PPT2_ENST00000395523.1_Missense_Mutation_p.I40M																							AGCCGGTCATCGTGGTGCATG	0.657000													35	59					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783952	3783952	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:3783952C>T	ENST00000310132.6	-	6	840	c.442G>A	c.(442-444)Gag>Aag	p.E148K	MATK_ENST00000585778.1_Missense_Mutation_p.E148K|MATK_ENST00000395040.2_Missense_Mutation_p.E107K|MATK_ENST00000395045.2_Missense_Mutation_p.E149K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	148	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCGGACTCCCGCACCAGG	0.687000													4	29					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39888326	39888326	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:39888326G>A	ENST00000393939.2	-	4	768	c.759C>T	c.(757-759)ctC>ctT	p.L253L	HAP1_ENST00000310778.5_Silent_p.L253L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.L253L|HAP1_ENST00000341193.5_Silent_p.L261L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	253	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGTAGAGCTGGAGGAGCTCAT	0.527000													7	32					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167938	161167938	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:161167938G>A	ENST00000367996.5	-	1	908	c.480C>T	c.(478-480)ctC>ctT	p.L160L	ADAMTS4_ENST00000367995.3_Silent_p.L160L	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGGAGGTGGAGTTCAGCCC	0.622000													21	720					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20102612	20102612	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:20102612G>C	ENST00000541730.1	-	12	1541	c.946C>G	c.(946-948)Ctc>Gtc	p.L316V	MBOAT1_ENST00000324607.7_Missense_Mutation_p.L465V			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	465					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTATCAGGAGACTTATGATG	0.338000													45	71					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31850318	31850318	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:31850318G>A	ENST00000397525.1	-	10	1547	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	EIF4ENIF1_ENST00000344710.5_Silent_p.L279L|EIF4ENIF1_ENST00000330125.5_Silent_p.L442L|EIF4ENIF1_ENST00000382180.2_Silent_p.L121L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Silent_p.L442L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	442						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGCCCTTCAGACCTGCTTCT	0.463000													5	47					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13759060	13759060	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:13759060G>A	ENST00000265104.4	-	61	10418	c.10314C>T	c.(10312-10314)ctC>ctT	p.L3438L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3438	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGGCCAGGAGATGGCGAT	0.542000									Kartagener syndrome				49	91					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142225954	142225954	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:142225954G>A	ENST00000519067.1	-	6	1995	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SLC45A4_ENST00000517878.1_Silent_p.Y615Y|SLC45A4_ENST00000433583.2_Silent_p.Y557Y|SLC45A4_ENST00000024061.3_Silent_p.Y564Y			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	615					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCATGGCGACGTAGACGTTGG	0.592000													12	67					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140728821	140728821	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:140728821C>T	ENST00000460843.1	+	26	3588	c.3561C>T	c.(3559-3561)atC>atT	p.I1187I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1187	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTTACTGCATCGACGCGCGGT	0.677000													8	33					0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73183942	73183942	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:73183942G>T	ENST00000395145.2	-	1	658	c.438C>A	c.(436-438)ttC>ttA	p.F146L		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	146					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGGGGTTGTAGAAGTCCCGGA	0.701000													7	14					5.18039e-06	5.3188e-06	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35389933	35389933	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:35389933G>A	ENST00000378495.3	+	24	3160	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E992K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E980K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	980					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)			GTCAATCATAGAGGAAGATAA	0.498000													67	58					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564297	140564297	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:140564297G>A	ENST00000361016.2	+	1	3318	c.2163G>A	c.(2161-2163)tcG>tcA	p.S721S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		721					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCTCGGTGGGCCGCT	0.662000													56	119					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411420	43411420	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43411420C>G	ENST00000310826.5	-	3	2968	c.2785G>C	c.(2785-2787)Gag>Cag	p.E929Q	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E929Q|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E929Q|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E728Q	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CACAGAAGCTCCTGGTGACGC	0.512000													9	52					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119413985	119413985	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:119413985G>A	ENST00000313400.4	-	17	2994	c.2894C>T	c.(2893-2895)tCa>tTa	p.S965L	ASTN2_ENST00000361477.3_Missense_Mutation_p.S17L|ASTN2_ENST00000358637.4_Missense_Mutation_p.S17L|ASTN2_ENST00000373996.3_Missense_Mutation_p.S961L|ASTN2_ENST00000288520.5_Missense_Mutation_p.S66L|ASTN2_ENST00000341734.4_Missense_Mutation_p.S17L|ASTN2_ENST00000361209.2_Missense_Mutation_p.S914L			O75129	ASTN2_HUMAN	astrotactin 2	965						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGGTCATCTGACAGCATCTG	0.577000													14	51					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52523606	52523606	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:52523606C>T	ENST00000345716.4	+	17	3502	c.3368C>T	c.(3367-3369)tCg>tTg	p.S1123L	NISCH_ENST00000479054.1_Missense_Mutation_p.S1123L	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1123				S -> P (in Ref. 8; AAH38102).	apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGATCCCCTCGCACTTGCCT	0.687000													18	87					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163297	32163297	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:32163297C>T	ENST00000375023.3	-	30	6067	c.5929G>A	c.(5929-5931)Gag>Aag	p.E1977K	GPSM3_ENST00000375043.3_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1977					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.E1977Q(2)|p.E1977K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GATCCCCGCTCCGGGGACGGA	0.567000													22	75					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160920404	160920404	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:160920404C>T	ENST00000368029.3	-	5	596	c.539G>A	c.(538-540)aGg>aAg	p.R180K	ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	180	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGCGGTACCTCAGCAGGGC	0.577000													531	90					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128122945	128122945	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:128122945G>A	ENST00000470056.1	+	24	4262	c.4102G>A	c.(4102-4104)Gag>Aag	p.E1368K	GAPVD1_ENST00000495955.1_Missense_Mutation_p.E1413K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1395K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1347K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1413K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1374K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1387K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1422K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1413	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTGGCCAATGAGGACTCTGT	0.473000													43	55					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097728	85097728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:85097728G>C	ENST00000335459.5	-	2	495	c.290C>G	c.(289-291)tCa>tGa	p.S97*	TRABD2A_ENST00000409520.2_Nonsense_Mutation_p.S97*|TRABD2A_ENST00000409133.1_Nonsense_Mutation_p.S97*	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GGTGAGAGCTGAGATGGTATA	0.552000													3	22					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30734595	30734595	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:30734595G>C	ENST00000217315.5	+	9	1180	c.840G>C	c.(838-840)ctG>ctC	p.L280L	TM9SF4_ENST00000398022.2_Silent_p.L297L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	297						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGGTATCCTGAGCATGATTA	0.517000													9	21					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997290	61997290	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr14:61997290G>C	ENST00000332981.5	+	12	2123	c.1738G>C	c.(1738-1740)Gat>Cat	p.D580H	PRKCH_ENST00000555082.1_Missense_Mutation_p.D419H|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.K84N	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	580	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GCTCCATGAAGATGCCACAGG	0.478000													22	30					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30704790	30704790	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:30704790G>A	ENST00000471646.1	-	5	856	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	CRHR2_ENST00000341843.4_Silent_p.L133L|CRHR2_ENST00000348438.4_Silent_p.L174L|CRHR2_ENST00000506074.2_Silent_p.L147L	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	147					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACATTCCGCAGACAGCGAATG	0.567000													7	18					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52531671	52531671	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:52531671C>T	ENST00000242839.4	-	9	2584	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	ATP7B_ENST00000448424.2_Missense_Mutation_p.E732K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E648K|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.E82K|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.E810K|ATP7B_ENST00000400366.3_Missense_Mutation_p.E699K	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	810					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AAATTGTCCTCACCAAGGGTC	0.433000									Wilson disease				11	90					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898409	127898409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:127898409G>T	ENST00000329722.7	+	1	91	c.79G>T	c.(79-81)Gag>Tag	p.E27*	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	27						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CAATCTCTCAGAGACAGAGCC	0.502000													35	76					1.21669e-08	1.26611e-08	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52192921	52192921	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:52192921C>T	ENST00000371471.2	-	4	2807	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	ZNF217_ENST00000302342.3_Silent_p.Q794Q			O75362	ZN217_HUMAN	zinc finger protein 217	794					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGGAGGGCTCTGCTTCCCCT	0.562000													8	53					0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20870915	20870915	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:20870915C>T	ENST00000272224.3	+	2	1659	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	361					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGGAGCTCGGCTGGGACG	0.716000													5	31					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128409308	128409308	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:128409308G>A	ENST00000544369.1	+	4	1694	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.L361L|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.L361L|LIMS2_ENST00000409808.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	361						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		AGAGCTCGCTGAGTGCCAAGT	0.627000													25	46					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245772807	245772807	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:245772807G>A	ENST00000366518.4	+	5	852	c.748G>A	c.(748-750)Gag>Aag	p.E250K	KIF26B_ENST00000407071.2_Missense_Mutation_p.E631K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	631					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTACCTCTGTGAGGACCCCAT	0.682000													4	8					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101895004	101895004	+	Missense_Mutation	SNP	C	C	T	rs144313652		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:101895004C>T	ENST00000374994.4	+	3	674	c.557C>T	c.(556-558)aCg>aTg	p.T186M	TGFBR1_ENST00000552516.1_Missense_Mutation_p.T190M|TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Missense_Mutation_p.T117M	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	186	GS.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GATATGACAACGTCAGGTTCT	0.348000													17	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417514	179417514	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:179417514G>A	ENST00000589042.1	-	335	90337	c.90113C>T	c.(90112-90114)tCa>tTa	p.S30038L	TTN_ENST00000591111.1_Missense_Mutation_p.S28397L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21098L|TTN_ENST00000460472.2_Missense_Mutation_p.S20973L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21165L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27470L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28397	Ig-like 136.						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)			GTCTTTCATTGAGAGATCACG	0.438000													12	37					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318041	40318041	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:40318041C>G	ENST00000593685.1	-	8	1447	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	DYRK1B_ENST00000430012.2_Missense_Mutation_p.E327Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.E327Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.E327Q|DYRK1B_ENST00000323039.5_Missense_Mutation_p.E327Q			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	327	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCCAGCACCTCCACAATGCGG	0.657000													10	50					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501795	47501795	+	Nonsense_Mutation	SNP	C	C	T	rs115915334	by1000genomes	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:47501795C>T	ENST00000371901.3	+	6	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.Q242*|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	243						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACTCAGCCCTCAGGGCTACCG	0.433000													44	72					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100521887	100521887	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:100521887C>G	ENST00000457717.1	+	10	1489	c.1233C>G	c.(1231-1233)ctC>ctG	p.L411L	MTTP_ENST00000511045.1_Silent_p.L438L|MTTP_ENST00000265517.5_Silent_p.L411L|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	411	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGAGAGCCCTCATTGTAAGTC	0.363000													21	20					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46996904	46996904	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:46996904C>G	ENST00000599531.1	-	1	2851	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	609										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCTTGGCCTCGCCTGCCCTG	0.736000													3	11					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973699	54973699	+	Missense_Mutation	SNP	C	C	A	rs141751232		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:54973699C>A	ENST00000333834.4	-	1	1195	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	359					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGTGTAGGTTCTGAGAGGGCA	0.647000													14	58					1.37285e-15	1.45393e-15	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47500758	47500758	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:47500758G>C	ENST00000285039.7	-	10	1583	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	428	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)		AGTGCTGCTTGAGGGAGGTGT	0.572000													16	55					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27590687	27590687	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:27590687C>T	ENST00000493344.2	-	7	1083	c.771G>A	c.(769-771)gtG>gtA	p.V257V	EIF2B4_ENST00000451130.2_Silent_p.V256V|EIF2B4_ENST00000347454.4_Silent_p.V236V|EIF2B4_ENST00000445933.2_Silent_p.V235V			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	236					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCCTGAATCACCTATAGGG	0.443000													16	63					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868208	73868208	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:73868208G>C	ENST00000272425.3	-	2	697	c.548C>G	c.(547-549)tCt>tGt	p.S183C		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	183	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGCCATAGCAGAGAGCTGGAT	0.562000													19	30					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72159872	72159872	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:72159872C>T	ENST00000537465.1	-	15	2421	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E605K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E750K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	755										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCACCTTCTCGAGGGCTTGT	0.537000													35	90					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6196898	6196898	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:6196898G>A	ENST00000262450.3	-	16	2563	c.2464C>T	c.(2464-2466)Ctg>Ttg	p.L822L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	822	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GAGGTGAGCAGCACGTGGAAT	0.567000													8	38					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54446755	54446755	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:54446755G>A	ENST00000254442.3	+	18	3252	c.3041G>A	c.(3040-3042)cGa>cAa	p.R1014Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R981Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1014										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATGCTGGCCCGAAGATGGCAA	0.413000													12	47					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29391509	29391509	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:29391509C>G	ENST00000343067.4	+	16	2150	c.2023C>G	c.(2023-2025)Caa>Gaa	p.Q675E	EPB41_ENST00000373798.1_Missense_Mutation_p.Q675E|EPB41_ENST00000398863.2_Missense_Mutation_p.Q621E|EPB41_ENST00000373800.3_Missense_Mutation_p.Q433E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q586E|EPB41_ENST00000349460.4_Missense_Mutation_p.Q452E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q661E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q642E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	675	Spectrin--actin-binding.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGACAAGAGTCAAGAGGAGAT	0.433000													18	31					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109046871	109046871	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:109046871C>T	ENST00000335658.6	-	7	933	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	293						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AGACCTTGTTCCTATAAAGCA	0.343000													79	142					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101505356	101505356	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:101505356T>C	ENST00000392979.3	+	23	2574	c.2213T>C	c.(2212-2214)aTt>aCt	p.I738T	ANO4_ENST00000550015.1_Missense_Mutation_p.I293T|ANO4_ENST00000392977.3_Missense_Mutation_p.I773T|ANO4_ENST00000299222.9_Missense_Mutation_p.I293T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	773						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGTATGGAATTCTTGAAGGC	0.328000										HNSCC(74;0.22)			5	50					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99272047	99272047	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:99272047C>G	ENST00000375241.1	-	13	1819	c.1368G>C	c.(1366-1368)caG>caC	p.Q456H	CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.Q419H|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	456					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTTACAGCTCTGAACACTGG	0.343000													34	34					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456059	110456059	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:110456059G>A	ENST00000378402.5	+	37	4823	c.4719G>A	c.(4717-4719)ccG>ccA	p.P1573P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1573	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACATTACTCCGTCCACTGGAA	0.358000										HNSCC(38;0.096)			6	71					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236195949	236195949	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:236195949G>A	ENST00000264187.6	-	6	1371	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	NID1_ENST00000366595.3_Missense_Mutation_p.S430F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	430	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCGCTGGGGGGAACCTGAGCA	0.458000													9	18					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198711117	198711117	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:198711117C>T	ENST00000367376.2	+	24	2688	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F	PTPRC_ENST00000348564.6_Silent_p.F680F|PTPRC_ENST00000594404.1_Silent_p.F678F|PTPRC_ENST00000442510.2_Silent_p.F841F|PTPRC_ENST00000352140.3_Silent_p.F791F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	839	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAATGCCTTCAGCAATTTCT	0.473000													7	39					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47278938	47278938	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:47278938G>A	ENST00000319190.5	+	18	2439	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	TTC7A_ENST00000394850.2_Missense_Mutation_p.E715K|TTC7A_ENST00000263737.6_Missense_Mutation_p.E337K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E657K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	691							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGCCATGTCAGAGCTGACTAT	0.662000													17	46					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25302012	25302012	+	RNA	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:25302012G>A	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA																							TGCTTGGATCGATGATGAGTC	0.507000													15	188					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981895	6981895	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:6981895G>C	ENST00000519357.1	-	2	357	c.171C>G	c.(169-171)atC>atG	p.I57M	SPSB2_ENST00000523102.1_Missense_Mutation_p.I57M|SPSB2_ENST00000524270.1_Missense_Mutation_p.I57M			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	57	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCTTGACCTCGATGTTCTCTG	0.647000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	89					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138023786	138023786	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:138023786G>A	ENST00000383180.2	-	10	774	c.537C>T	c.(535-537)gaC>gaT	p.D179D	NME9_ENST00000317876.4_Silent_p.D179D|NME9_ENST00000341790.5_Silent_p.D177D|NME9_ENST00000333911.3_Silent_p.D240D|NME9_ENST00000484930.1_Silent_p.D177D|NME9_ENST00000536478.1_Silent_p.D179D	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	240	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TAGTGACCACGTCCTCGAAGC	0.592000													20	274					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111643787	111643787	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:111643787T>C	ENST00000435970.1	-	28	8918	c.8102A>G	c.(8101-8103)tAt>tGt	p.Y2701C	REV3L_ENST00000368802.3_Missense_Mutation_p.Y2779C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y2779C|REV3L_ENST00000358835.3_Missense_Mutation_p.Y2779C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2779					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)		AGTATCGCCATATACAACCCT	0.403000								DNA polymerases (catalytic subunits)					25	100					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48504462	48504462	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:48504462G>C	ENST00000417961.1	+	16	1993	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	SLC9A8_ENST00000541138.1_Missense_Mutation_p.E279Q|SLC9A8_ENST00000361573.2_Missense_Mutation_p.E579Q|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.E360Q	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	579						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CGACGAGCAGGAGCTGCTCTG	0.652000													7	43					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038328	75038328	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:75038328G>C	ENST00000326665.5	-	14	3284	c.3066C>G	c.(3064-3066)gcC>gcG	p.A1022A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1022	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCAAAGGAAGGCTTCCTTTG	0.502000													19	102					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110406159	110406159	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:110406159C>G	ENST00000372007.5	+	9	876	c.485C>G	c.(484-486)tCt>tGt	p.S162C	PAK3_ENST00000519681.1_Missense_Mutation_p.S183C|PAK3_ENST00000360648.4_Missense_Mutation_p.S198C|PAK3_ENST00000417227.1_Missense_Mutation_p.S183C|PAK3_ENST00000262836.4_Missense_Mutation_p.S177C|PAK3_ENST00000518291.1_Missense_Mutation_p.S198C|PAK3_ENST00000425146.1_Missense_Mutation_p.S162C|PAK3_ENST00000372010.1_Missense_Mutation_p.S177C|PAK3_ENST00000446737.1_Missense_Mutation_p.S162C	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAAACAGCATCTGAGCCTCCA	0.383000										TSP Lung(19;0.15)			19	59					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65098412	65098412	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:65098412G>A	ENST00000371073.2	+	6	775	c.775G>A	c.(775-777)Gat>Aat	p.D259N	CACHD1_ENST00000495994.1_Intron|CACHD1_ENST00000290039.5_Missense_Mutation_p.D208N			Q5VU97	CAHD1_HUMAN	cache domain containing 1	259	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGCGCCATCGATGAACATGA	0.468000													12	39					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131414187	131414187	+	Translation_Start_Site	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:131414187C>A	ENST00000357668.1	-	1	30	c.3G>T	c.(1-3)atG>atT	p.M1I	ASAP1_ENST00000518721.1_Start_Codon_SNP_p.M1I			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1					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						CTGAAGATCTCATGTCTCAGC	0.517000													35	91					5.71845e-15	6.04426e-15	1	1	0
PUM1	9698	broad.mit.edu	37	1	31465283	31465283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:31465283G>C	ENST00000373747.3	-	7	1211	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	PUM1_ENST00000426105.2_Nonsense_Mutation_p.S371*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.S371*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.S371*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.S311*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.S275*|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Nonsense_Mutation_p.S407*	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	371					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)		TGCTGCTGCTGAGTCCACAGG	0.522000													20	110					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122552284	122552284	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:122552284G>C	ENST00000261038.5	+	4	1222	c.824G>C	c.(823-825)aGa>aCa	p.R275T		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	275					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		AGCGTTTGTAGATTATTAAGG	0.398000													84	90					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887850	111887850	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:111887850C>T	ENST00000305815.5	-	25	3363	c.3111G>A	c.(3109-3111)atG>atA	p.M1037I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M989I	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1037					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTTTGGTACTCATTGGTATAT	0.303000													14	64					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793385	242793385	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:242793385C>T	ENST00000334409.5	-	5	761	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	231					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGTCTTCTCTCGCCACTGGAA	0.627000													5	23					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679043	104679043	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:104679043C>G	ENST00000369878.4	+	1	994	c.806C>G	c.(805-807)tCg>tGg	p.S269W	CNNM2_ENST00000369875.3_Missense_Mutation_p.S269W|CNNM2_ENST00000433628.2_Missense_Mutation_p.S269W	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		DUF21.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGTGCCTGTCGGGCATGTTC	0.597000													17	37					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30232580	30232580	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:30232580C>T	ENST00000376075.3	+	5	464	c.389C>T	c.(388-390)cCa>cTa	p.P130L	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	130					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GTATTTCCTCCAAAGCCGATC	0.617000													5	45					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319105	19319105	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:19319105C>A	ENST00000461366.1	+	14	1728	c.1513C>A	c.(1513-1515)Ctg>Atg	p.L505M		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	505							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						AGATGCCATTCTGGCCCGCCA	0.607000													12	21					9.31168e-06	9.54225e-06	1	1	0
PXK	54899	broad.mit.edu	37	3	58410642	58410642	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:58410642G>C	ENST00000479241.1	+	18	1713	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q	PXK_ENST00000536660.1_Missense_Mutation_p.L427F|PXK_ENST00000302779.5_Missense_Mutation_p.L547F|PXK_ENST00000356151.2_Missense_Mutation_p.L564F|PXK_ENST00000383716.3_Missense_Mutation_p.L531F|PXK_ENST00000463280.1_3'UTR			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	0	WH2.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAGGAACTTTGAGGAAAGCCA	0.512000													14	32					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010581	59010581	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:59010581C>G	ENST00000263093.2	-	8	1783	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	SLC27A5_ENST00000601355.1_Missense_Mutation_p.K474N|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	558					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGTTCTCGCCCTTCCATCTGC	0.667000													4	24					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77859162	77859162	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:77859162C>T	ENST00000302536.2	+	3	536	c.383C>T	c.(382-384)gCa>gTa	p.A128V		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	128							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGTGTCATGGCATTTGTCAAT	0.522000													13	80					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													3	24					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33612854	33612854	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:33612854G>A	ENST00000321505.4	+	11	3927	c.3747G>A	c.(3745-3747)gtG>gtA	p.V1249V	KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Silent_p.V1255V					KIAA1549-like																		TCATCCCTGTGACTCAGGAGA	0.537000													5	26					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10916634	10916634	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:10916634C>T	ENST00000314646.5	+	13	1700	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	DNM2_ENST00000585892.1_Silent_p.I512I|DNM2_ENST00000355667.6_Silent_p.I512I|DNM2_ENST00000389253.4_Silent_p.I512I|DNM2_ENST00000359692.6_Silent_p.I512I|DNM2_ENST00000408974.4_Silent_p.I512I			P50570	DYN2_HUMAN	dynamin 2	512					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGAGAGCCATCCCCAATCAGG	0.612000			"""F, N, Splice, Mis, O"""		ETP ALL								8	45					0	0	1	0	0
FAM26D	221301	broad.mit.edu	37	6	116879168	116879168	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:116879168C>A	ENST00000368596.3	+	2	783	c.739C>A	c.(739-741)Cgc>Agc	p.R247S	FAM26D_ENST00000405399.1_Missense_Mutation_p.R104S|FAM26D_ENST00000416171.2_Missense_Mutation_p.R103S|FAM26D_ENST00000368597.2_Missense_Mutation_p.R61S			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	247						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		CATGATGCATCGCATAAAGAA	0.488000													34	75					3.62531e-18	3.85458e-18	1	1	0
GLI4	2738	broad.mit.edu	37	8	144356908	144356908	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:144356908G>A	ENST00000517468.1	+	2	182	c.143G>A	c.(142-144)aGc>aAc	p.S48N	GLI4_ENST00000523522.1_Silent_p.Q53Q|GLI4_ENST00000344692.3_Silent_p.Q53Q|GLI4_ENST00000521682.1_Silent_p.Q53Q|GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Silent_p.Q53Q|ZFP41_ENST00000522452.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	0						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCTCTCCCAGCCGTCCGACC	0.647000													4	9					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78700967	78700967	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:78700967G>A	ENST00000436010.2	-	17	3607	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	ROBO1_ENST00000467549.1_Silent_p.I873I|ROBO1_ENST00000464233.1_Silent_p.I909I|ROBO1_ENST00000495273.1_Silent_p.I873I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	909					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCATGAGGATGATCCAACAGG	0.507000													7	59					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1053410	1053410	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:1053410G>A	ENST00000263094.6	+	24	3534	c.3303G>A	c.(3301-3303)ctG>ctA	p.L1101L	ABCA7_ENST00000433129.1_Silent_p.L1101L|ABCA7_ENST00000435683.2_Silent_p.L963L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1101					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGTGCTGGTGCTGCCCT	0.662000													3	13					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932792	49932792	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:49932792C>T	ENST00000296474.3	-	14	3106	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	MST1R_ENST00000344206.4_Missense_Mutation_p.D978N	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1027					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCCAGACCATCAATGGCAGGG	0.537000													13	83					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764768	138764768	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:138764768G>A	ENST00000242351.5	-	4	1235	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R307W|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R307W	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	307					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GAGGGAGGCCGAGCGCGATCC	0.582000													21	59					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10339113	10339113	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:10339113G>A	ENST00000298530.3	+	3	750	c.172G>A	c.(172-174)Gat>Aat	p.D58N	TMEM52B_ENST00000536952.1_Missense_Mutation_p.D78N|TMEM52B_ENST00000381923.2_Missense_Mutation_p.D78N	NM_153022.2	NP_694567.1			transmembrane protein 52B																		AAATGGGGAAGATGGGGGCCC	0.552000													24	63					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50883087	50883087	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:50883087C>G	ENST00000542413.1	+	12	1598	c.171C>G	c.(169-171)atC>atG	p.I57M	NR1H2_ENST00000253727.5_Missense_Mutation_p.I326M|NR1H2_ENST00000411902.2_Missense_Mutation_p.I229M|NR1H2_ENST00000598168.1_Missense_Mutation_p.I296M|NR1H2_ENST00000593926.1_Missense_Mutation_p.I326M|NR1H2_ENST00000599105.1_Missense_Mutation_p.I282M			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	326					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CAGAGTGTATCACCTTCTTGA	0.617000													14	42					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43325908	43325908	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43325908C>T	ENST00000380486.3	-	11	1598	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	C2CD2_ENST00000329623.7_Missense_Mutation_p.E298K	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	453						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ATGTCCTTCTCGATCACCTTC	0.562000													17	25					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50714136	50714136	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:50714136G>C	ENST00000595015.1	+	1	34	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	PLXNB2_ENST00000359337.4_Silent_p.L1838L|PLXNB2_ENST00000449103.1_Silent_p.L1838L																							TTGTAGGTCAGAGGTCAGTGA	0.612000											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	11					0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317430	43317430	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:43317430C>T	ENST00000372504.1	+	5	1217	c.867C>T	c.(865-867)ctC>ctT	p.L289L	ZNF691_ENST00000372502.1_Silent_p.L289L|ZNF691_ENST00000372507.1_Silent_p.L267L|ZNF691_ENST00000397044.3_Silent_p.L298L|ZNF691_ENST00000372506.1_Silent_p.L267L|ZNF691_ENST00000372508.3_Silent_p.L267L			Q5VV52	ZN691_HUMAN	zinc finger protein 691	298						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTCGAATCTCATCCGCCACC	0.557000													12	41					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800271	39800271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:39800271C>T	ENST00000564288.1	+	37	8788	c.8011C>T	c.(8011-8013)Cag>Tag	p.Q2671*	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q2676*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q1111*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q2708*|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2676					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)			TCAAGCAATTCAGCTTGGAAA	0.403000													19	42					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517172	26517172	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:26517172C>G	ENST00000456354.2	+	1	121	c.54C>G	c.(52-54)ctC>ctG	p.L18L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	18					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGGCCTCGAGGGGTGGG	0.577000													3	7					0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111726824	111726824	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:111726824C>G	ENST00000545121.1	+	9	1351	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	CEPT1_ENST00000357172.4_Missense_Mutation_p.F381L|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	381						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TTTTCTCTTTCTTTGATTTGA	0.433000													14	81					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902632	61902632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:61902632C>A	ENST00000427159.2	-	7	1210	c.565G>T	c.(565-567)Gaa>Taa	p.E189*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	189					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCTGCAGATTCATGGCGAGAG	0.502000													14	50					2.62699e-14	2.77121e-14	1	1	0
ANGPTL3	27329	broad.mit.edu	37	1	63069688	63069688	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:63069688C>G	ENST00000371129.3	+	6	1060	c.980C>G	c.(979-981)tCt>tGt	p.S327C	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	327	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						GTGAAGCAATCTAATTATGTT	0.328000													14	51					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119460354	119460354	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:119460354C>T	ENST00000450136.1	+	2	494	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.F111F|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	111					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCGGCAATTCTGCCGGAGCT	0.592000													15	87					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935717	151935717	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:151935717G>C	ENST00000393902.3	-	3	1017	c.450C>G	c.(448-450)atC>atG	p.I150M	MAGEA3_ENST00000370278.3_Missense_Mutation_p.I150M			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	150	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTGCTGAAGATCACAGGAA	0.527000													42	88					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108114803	108114803	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:108114803C>G	ENST00000278616.4	+	6	1005	c.620C>G	c.(619-621)tCc>tGc	p.S207C	ATM_ENST00000452508.2_Missense_Mutation_p.S207C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	207					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	p.S207C(1)		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)		GGATTAAATTCCAAATTTTTG	0.348000			"""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)			23	41					0	0	1	0	0
LSM7	51690	broad.mit.edu	37	19	2328462	2328462	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:2328462C>T	ENST00000252622.10	-	2	74	c.21G>A	c.(19-21)aaG>aaA	p.K7K		NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)						nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTTTTTCTTCTTCTCCT	0.622000													13	46					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	174946672	174946672	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:174946672C>T	ENST00000284719.3	-	8	1095	c.849G>A	c.(847-849)ctG>ctA	p.L283L	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Silent_p.L125L|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000409546.1_Silent_p.L303L	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	283					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGTTCGCTTCCAGATACTTCT	0.408000													27	42					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127631015	127631015	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:127631015G>A	ENST00000354725.3	+	16	1879	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	562	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAATGCCCCAGAGGAGCCCGA	0.547000													5	13					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183526914	183526914	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:183526914G>A	ENST00000305135.5	+	30	4311	c.4116G>A	c.(4114-4116)ctG>ctA	p.L1372L	YEATS2-AS1_ENST00000609871.1_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1372					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)			ATGATATCCTGAGACAGGCTT	0.463000													42	355					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161013	90161013	+	RNA	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:90161013C>T	ENST00000564451.1	+	0	894				TUBB8P7_ENST00000567960.1_RNA																							CGGGGCCCTTCGGGCAGGTCT	0.667000													26	51					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25881975	25881975	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:25881975C>T	ENST00000463407.1	+	2	282	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.L47F|NUPL1_ENST00000381718.3_Missense_Mutation_p.L47F			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	47	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTTTGGAAATCTTGGAAGTAC	0.418000													28	68					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95862252	95862252	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:95862252G>C	ENST00000523731.1	+	12	1573	c.1440G>C	c.(1438-1440)caG>caC	p.Q480H	INTS8_ENST00000447247.1_Missense_Mutation_p.Q480H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	480					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTGTTGATCAGATGAGGAAGA	0.398000													33	73					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704921	38704921	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:38704921C>G	ENST00000359357.3	+	4	444	c.190C>G	c.(190-192)Cca>Gca	p.P64A	DNAH8_ENST00000441566.1_Missense_Mutation_p.P64A|DNAH8_ENST00000449981.2_Missense_Mutation_p.P281A					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						TATATTTCTACCAGCTGTTCT	0.398000													32	102					0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576542	149576542	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:149576542G>A	ENST00000421974.2	+	3	1369	c.418G>A	c.(418-420)Gac>Aac	p.D140N	ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.D91N|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.D114N|ATP6V0E2_ENST00000425642.2_3'UTR	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CAGAGACCCGGACCCGCAGGG	0.677000													3	11					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701967	143701967	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:143701967G>C	ENST00000408922.2	+	1	946	c.878G>C	c.(877-879)cGa>cCa	p.R293P		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTAAGAAACCGAGAGGTCAAG	0.433000													6	37					0	0	1	0	0
TPD52	7163	broad.mit.edu	37	8	80915324	80915324	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:80915324C>T	ENST00000537855.1	-	6	968	c.647G>A	c.(646-648)gGa>gAa	p.G216E	MRPS28_ENST00000522987.1_5'UTR|MRPS28_ENST00000276585.4_Missense_Mutation_p.G102E|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000521434.1_Missense_Mutation_p.G40E			P55327	TPD52_HUMAN	tumor protein D52	0					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			AAAGATCCGTCCAATGACCAG	0.388000													18	51					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139837027	139837027	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:139837027G>A	ENST00000325285.3	-	5	726	c.647C>T	c.(646-648)tCg>tTg	p.S216L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	216							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CCACAGCACCGAGCAGGAGGT	0.682000													5	12					0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20979534	20979534	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:20979534C>G	ENST00000383233.3	-	4	327	c.275G>C	c.(274-276)aGa>aCa	p.R92T	TMEM241_ENST00000542162.1_Missense_Mutation_p.R92T|TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000399707.1_Missense_Mutation_p.R66T	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	92						integral to membrane											ACTTACCAGTCTGGACAATGC	0.448000													5	38					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20136252	20136252	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:20136252G>A	ENST00000396085.1	+	38	7445	c.7084G>A	c.(7084-7086)Gag>Aag	p.E2362K	NAV2_ENST00000540292.1_Missense_Mutation_p.E2349K|NAV2_ENST00000527559.2_Missense_Mutation_p.E2347K|NAV2_ENST00000349880.4_Missense_Mutation_p.E2359K|NAV2_ENST00000533917.1_Missense_Mutation_p.E1423K|NAV2_ENST00000396087.3_Missense_Mutation_p.E2418K|NAV2_ENST00000360655.4_Missense_Mutation_p.E2295K|NAV2_ENST00000311043.8_Missense_Mutation_p.E1423K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2418						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTTACGGCCTGAGGATGTCGG	0.627000													5	12					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059828	40059828	+	Silent	SNP	G	G	A	rs58500586	by1000genomes	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:40059828G>A	ENST00000336649.4	+	22	3597	c.3597G>A	c.(3595-3597)caG>caA	p.Q1199Q	CACNA1I_ENST00000400164.3_Silent_p.Q1158Q|CACNA1I_ENST00000407673.1_Silent_p.Q1158Q|CACNA1I_ENST00000401624.1_Silent_p.Q1193Q|CACNA1I_ENST00000402142.3_Silent_p.Q1193Q|CACNA1I_ENST00000404898.1_Silent_p.Q1158Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1193					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCGGCCTCAGATCGAGGCCG	0.622000													10	79					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426404	71426404	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:71426404G>A	ENST00000373657.1	-	3	2446	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	ERCC6L_ENST00000334463.3_Missense_Mutation_p.S738F|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	738	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTTTGTTGAAGAAGGAAATAC	0.398000													20	46					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185226661	185226661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:185226661G>A	ENST00000296252.4	-	10	1414	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	LIPH_ENST00000424591.2_Nonsense_Mutation_p.Q391*	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	425					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CGACACAGCTGAGGCCTGGGA	0.348000													8	41					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948700	198948700	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:198948700C>T	ENST00000428675.1	+	2	857	c.459C>T	c.(457-459)ctC>ctT	p.L153L	PLCL1_ENST00000437704.2_Silent_p.L55L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	153	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAAAGACCTCGAGAAAGCCA	0.443000													6	42					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933376	48933376	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:48933376G>C	ENST00000356463.3	-	9	994	c.556C>G	c.(556-558)Cca>Gca	p.P186A	WDR45_ENST00000322995.8_Missense_Mutation_p.P196A|WDR45_ENST00000473974.1_Missense_Mutation_p.P185A|WDR45_ENST00000376372.3_Missense_Mutation_p.P185A|WDR45_ENST00000376368.2_Missense_Mutation_p.P186A|WDR45_ENST00000553851.1_Missense_Mutation_p.P83A|AF196779.12_ENST00000376358.3_Missense_Mutation_p.P83A|WDR45_ENST00000396681.4_Missense_Mutation_p.P185A|WDR45_ENST00000485908.1_Missense_Mutation_p.P150A	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	185					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ATCGTGAATGGAGCAGACGAG	0.572000													10	5					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824179	54824179	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:54824179G>C	ENST00000243911.2	+	1	392	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CAATGCCCTGGAGACCATCAT	0.562000													10	46					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31418327	31418327	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:31418327C>T	ENST00000373747.3	-	18	2962	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	PUM1_ENST00000426105.2_Missense_Mutation_p.E954K|PUM1_ENST00000257075.5_Missense_Mutation_p.E952K|PUM1_ENST00000440538.2_Missense_Mutation_p.E928K|PUM1_ENST00000373742.2_Missense_Mutation_p.E893K|PUM1_ENST00000423018.2_Missense_Mutation_p.E810K|PUM1_ENST00000424085.2_Missense_Mutation_p.E710K|PUM1_ENST00000373741.4_Missense_Mutation_p.E990K	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	952	PUM-HD.				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)		CGAACCATCTCATTCTAATGG	0.418000													7	33					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51012139	51012139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:51012139G>A	ENST00000261854.5	-	14	1760	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	496						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GCACATACCTGATAGCTGTTA	0.393000													12	48					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30386222	30386222	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:30386222G>A	ENST00000340513.4	+	18	2636	c.2108G>A	c.(2107-2109)aGa>aAa	p.R703K	TPX2_ENST00000300403.6_Missense_Mutation_p.R667K			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	667					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTGAGAAGAGAGCCAAAGAG	0.502000													5	84					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180790	142180790	+	RNA	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:142180790G>A	ENST00000390368.2	-	0	134																											GGGTCTGAGTGACACCAGCAT	0.527000													12	141					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44585289	44585289	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:44585289C>T	ENST00000421176.3	+	3	353	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTGCTATCAGTGGGTGAG	0.517000													51	91					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65944344	65944344	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:65944344C>T	ENST00000321892.4	+	25	8287	c.8226C>T	c.(8224-8226)ttC>ttT	p.F2742F	BPTF_ENST00000424123.3_Silent_p.F2460F|BPTF_ENST00000335221.5_Silent_p.F2599F|BPTF_ENST00000306378.6_Silent_p.F2616F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2742					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCTGCTCTTCAAGCACAAAG	0.473000													8	23					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161160158	161160158	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:161160158G>A	ENST00000308192.9	+	16	1999	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	646	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTGAATCTCGAACCGCATGT	0.488000													14	102					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41347448	41347448	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:41347448C>T	ENST00000361937.3	-	18	2609	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	INO80_ENST00000401393.3_Missense_Mutation_p.E729K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	729	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACTCACTCTCATCAATAGCA	0.348000													13	93					0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21732242	21732242	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:21732242G>C	ENST00000314759.5	-	7	1062	c.938C>G	c.(937-939)tCa>tGa	p.S313*	SKA3_ENST00000400018.3_Nonsense_Mutation_p.S313*	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	313					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTTGTTTTTGATAATGGGTA	0.269000													7	75					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403032	204403032	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:204403032G>A	ENST00000367187.3	-	26	4288	c.3732C>T	c.(3730-3732)atC>atT	p.I1244I	PIK3C2B_ENST00000424712.2_Silent_p.I1216I|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1244	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACCCCCGTTGATGACATACG	0.552000													10	74					0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21732131	21732131	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:21732131G>A	ENST00000314759.5	-	7	1173	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	SKA3_ENST00000400018.3_Missense_Mutation_p.S350F	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	350					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCATAAGAAGAAATCGTAGG	0.348000													22	119					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441526	44441526	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:44441526C>G	ENST00000291547.5	+	8	1045	c.834C>G	c.(832-834)ctC>ctG	p.L278L	PKNOX1_ENST00000432907.2_Silent_p.L161L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	278							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGTCCTGGCTCTTCCAGCACA	0.542000													4	55					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42317422	42317422	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:42317422C>T	ENST00000342228.3	-	5	974	c.605G>A	c.(604-606)gGa>gAa	p.G202E	SLC20A2_ENST00000520179.1_Missense_Mutation_p.G202E|SLC20A2_ENST00000520262.1_Missense_Mutation_p.G202E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	202					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGTGCTCCTGTGTACAT	0.473000													5	34					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421320	150421320	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:150421320C>T	ENST00000295910.6	-	1	418	c.366G>A	c.(364-366)ccG>ccA	p.P122P	FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	122										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTTGCGCTCGGCGTTTCAG	0.657000													4	25					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65129433	65129433	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:65129433C>G	ENST00000371073.2	+	14	2007	c.2007C>G	c.(2005-2007)ctC>ctG	p.L669L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.L618L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	669					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGAGCACCTCAGCCAGCCAG	0.547000													18	102					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045403	47045403	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:47045403G>A	ENST00000450053.3	+	36	5997	c.5818G>A	c.(5818-5820)Gag>Aag	p.E1940K	NBEAL2_ENST00000383740.2_Missense_Mutation_p.E219K|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1756K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1940							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGGCTGCTGGAGGTCACCAC	0.607000													17	29					0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950840	26950840	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:26950840C>T	ENST00000302909.3	+	2	714	c.589C>T	c.(589-591)Ctc>Ttc	p.L197F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	197					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATCACCCTCACCACCAT	0.607000													19	31					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54921408	54921408	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:54921408G>A	ENST00000284061.3	+	3	673	c.493G>A	c.(493-495)Gat>Aat	p.D165N	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	165					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AACAGTACATGATGAGTGCAT	0.313000													8	46					0	0	1	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13067699	13067699	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:13067699C>T	ENST00000316939.1	-	1	351	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	110					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TTCTGCTCTTCGGCCAGCTGC	0.697000													18	38					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447392	38447392	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:38447392C>G	ENST00000209728.4	+	3	732	c.261C>G	c.(259-261)caC>caG	p.H87Q		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	87					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GTCCCCCTCACTCACATACAC	0.413000													25	48					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244217170	244217170	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:244217170C>T	ENST00000358704.4	+	2	243	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.F22fs*2(1)									CCAGGGTTTTCTTTGTGACTG	0.493000													7	31					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447070	49447070	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:49447070C>T	ENST00000301067.7	-	7	873	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCACACGTCTCACAAACCAAC	0.458000													11	65					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171258002	171258002	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:171258002C>A	ENST00000334231.6	+	18	1957	c.1957C>A	c.(1957-1959)Ctg>Atg	p.L653M	MYO3B_ENST00000408978.4_Missense_Mutation_p.L644M|MYO3B_ENST00000409044.3_Missense_Mutation_p.L644M|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	644	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.L644M(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGCCTCTGTTCTGTGCATTAG	0.517000													3	27					0.115264	0.115479	1	1	0
GIT1	28964	broad.mit.edu	37	17	27908782	27908782	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:27908782G>A	ENST00000225394.3	-	6	944	c.696C>T	c.(694-696)ttC>ttT	p.F232F	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.F232F|GIT1_ENST00000581348.1_Silent_p.F232F|GIT1_ENST00000579937.1_Silent_p.F232F	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	232					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CACAGAGGTAGAAGGCCAGCC	0.667000													6	31					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761441	27761441	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:27761441C>T	ENST00000261588.4	+	16	3179	c.3160C>T	c.(3160-3162)Cgg>Tgg	p.R1054W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1054										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCCTTCACGCGGGGCAGATC	0.552000													12	57					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170841451	170841451	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:170841451C>G	ENST00000436636.2	-	18	2398	c.2054G>C	c.(2053-2055)aGa>aCa	p.R685T	TNIK_ENST00000460047.1_Missense_Mutation_p.R630T|TNIK_ENST00000488470.1_Missense_Mutation_p.R630T|TNIK_ENST00000369326.5_Missense_Mutation_p.R656T|TNIK_ENST00000475336.1_Missense_Mutation_p.R601T|TNIK_ENST00000284483.8_Missense_Mutation_p.R685T|TNIK_ENST00000470834.1_Missense_Mutation_p.R656T|TNIK_ENST00000357327.5_Missense_Mutation_p.R656T|TNIK_ENST00000538048.1_Missense_Mutation_p.R630T|TNIK_ENST00000341852.6_Missense_Mutation_p.R601T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	685	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGAATTCTTTCTGGCTAATGC	0.428000													4	15					0	0	1	0	0
C10orf32-ASMT	100528007	broad.mit.edu	37	10	104632204	104632204	+	Splice_Site	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:104632204G>T	ENST00000299353.6	+	8	513		c.e8-1		AS3MT_ENST00000369880.3_Splice_Site																							CCATTTCCCAGATATTATGGC	0.448000													16	47					1.15088e-07	1.19301e-07	1	1	0
VCAM1	7412	broad.mit.edu	37	1	101200147	101200147	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:101200147G>A	ENST00000294728.2	+	8	1983	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	VCAM1_ENST00000370119.4_Missense_Mutation_p.V566I|VCAM1_ENST00000370115.1_Missense_Mutation_p.V429I|VCAM1_ENST00000347652.2_Missense_Mutation_p.V536I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	628	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATGTGGAAATGTTCCAGAAAC	0.403000													14	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659208	179659208	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:179659208C>G	ENST00000589042.1	-	8	1540	c.1316G>C	c.(1315-1317)aGa>aCa	p.R439T	TTN_ENST00000591111.1_Missense_Mutation_p.R439T|TTN_ENST00000360870.5_Missense_Mutation_p.R439T|TTN_ENST00000359218.5_Missense_Mutation_p.R439T|TTN_ENST00000460472.2_Missense_Mutation_p.R439T|TTN_ENST00000342175.6_Missense_Mutation_p.R439T|TTN_ENST00000342992.6_Missense_Mutation_p.R439T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	439							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)			CACTGGTTCTCTCACTCTGGC	0.498000													21	91					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	45					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10789861	10789861	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:10789861G>A	ENST00000449870.1	+	7	1057	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ILF3_ENST00000588657.1_Missense_Mutation_p.R247Q|ILF3_ENST00000250241.8_Missense_Mutation_p.R247Q|ILF3_ENST00000592763.1_Missense_Mutation_p.R247Q|ILF3_ENST00000420083.1_Missense_Mutation_p.R247Q|ILF3_ENST00000589998.1_Missense_Mutation_p.R247Q|ILF3_ENST00000407004.3_Missense_Mutation_p.R247Q|ILF3_ENST00000590261.1_Missense_Mutation_p.R247Q|ILF3_ENST00000318511.3_Missense_Mutation_p.R247Q	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	247	DZF.				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)			GGTCCCCTCCGAGGCTGGGTA	0.597000													8	38					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75182954	75182954	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:75182954G>A	ENST00000352410.4	+	2	170	c.103G>A	c.(103-105)Gat>Aat	p.D35N	MPI_ENST00000563422.1_Missense_Mutation_p.D35N|MPI_ENST00000565576.1_Missense_Mutation_p.D35N|MPI_ENST00000564003.1_Intron|MPI_ENST00000566377.1_Missense_Mutation_p.D35N|MPI_ENST00000323744.6_Missense_Mutation_p.D35N|MPI_ENST00000562606.1_Missense_Mutation_p.D15N|MPI_ENST00000535694.1_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.D15N			P34949	MPI_HUMAN	mannose phosphate isomerase	35					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGCCAGCAGTGATCCACTGGC	0.597000													36	77					0	0	1	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54708240	54708240	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:54708240C>G	ENST00000355221.3	-	8	1342	c.783G>C	c.(781-783)gaG>gaC	p.E261D	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.E239D|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.E279D|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.E279D	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	279					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTGTTACTTTCTCTTTGACAG	0.393000													31	69					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643119	49643119	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:49643119G>A	ENST00000433756.1	-	2	302	c.143C>T	c.(142-144)tCt>tTt	p.S48F	EFCAB1_ENST00000523092.1_Missense_Mutation_p.S48F|EFCAB1_ENST00000262103.3_Missense_Mutation_p.S100F|EFCAB1_ENST00000521002.1_Intron	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	100							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTCTTCCAAAGATCCTCGAAG	0.348000													12	18					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101853618	101853618	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:101853618C>T	ENST00000348070.1	-	21	2658	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	PCSK6_ENST00000358417.3_Missense_Mutation_p.E874K|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	888	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCATCTCTTCTGGGTAGAAG	0.592000													12	71					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441047	37441047	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:37441047G>A	ENST00000374660.1	+	12	1636	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E513K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E513K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	569						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTGGGATTCTGAGGTACTATG	0.328000													18	95					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853396	29853396	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:29853396G>A	ENST00000357402.5	+	10	1735	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	MVP_ENST00000395353.1_Missense_Mutation_p.D533N	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	533					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGAAACGGCGGATCATGCCAG	0.622000													6	30					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536210	30536210	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:30536210G>A	ENST00000380412.5	-	2	1426	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	ZNF768_ENST00000562803.1_Silent_p.I386I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	417					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCATGGGGGATAAGGGCCG	0.672000													11	25					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411627	43411627	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43411627C>G	ENST00000310826.5	-	3	2761	c.2578G>C	c.(2578-2580)Gat>Cat	p.D860H	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Missense_Mutation_p.D860H|ZBTB21_ENST00000398511.3_Missense_Mutation_p.D860H|ZBTB21_ENST00000398505.3_Missense_Mutation_p.D659H	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CAAGAGGAATCTTCCGAGTCG	0.488000													24	108					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566244	102566244	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:102566244G>A	ENST00000370296.2	+	7	1293	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	PAX2_ENST00000556085.1_Missense_Mutation_p.R224Q|PAX2_ENST00000428433.1_Missense_Mutation_p.R248Q|PAX2_ENST00000361791.3_Missense_Mutation_p.R225Q|PAX2_ENST00000355243.3_Missense_Mutation_p.R225Q|PAX2_ENST00000553492.1_3'UTR			Q02962	PAX2_HUMAN	paired box 2	248					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GACAGTTTGCGGAAGCACTTG	0.582000													62	160					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043980	25043980	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr14:25043980C>T	ENST00000216336.2	-	3	276	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	80	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTTCCCGTCTCTGGATATTGT	0.537000													31	48					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101395550	101395550	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:101395550C>T	ENST00000312938.4	-	1	789	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11-AS1_ENST00000609682.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCCCGGCGTCGCTCCGGCTG	0.692000													5	9					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7766894	7766894	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:7766894G>A	ENST00000338316.4	+	17	2278	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R550H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	730					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGATTCTGCGTGCGCAGAAT	0.428000													68	82					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411159	43411159	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:43411159C>T	ENST00000310826.5	-	3	3229	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1016K|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1016K|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E815K	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		AACAGTTTTTCTGTGGCTGGA	0.522000													4	79					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25936900	25936900	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:25936900C>G	ENST00000356865.6	-	15	3238	c.3127G>C	c.(3127-3129)Gat>Cat	p.D1043H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1043					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACACCCACATCTGCCACCTGG	0.478000													44	104					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106401696	106401696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:106401696C>A	ENST00000369701.3	+	1	838	c.611C>A	c.(610-612)tCg>tAg	p.S204*		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	204						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGCACTGGTCGGGACACAAC	0.697000													6	8					0.00198382	0.00200997	1	1	0
URGCP	55665	broad.mit.edu	37	7	43916401	43916401	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:43916401G>A	ENST00000336086.6	-	4	4768	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Silent_p.P887P|URGCP_ENST00000443736.1_Silent_p.P844P|URGCP_ENST00000447717.3_Silent_p.P844P|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.P844P|URGCP_ENST00000402306.3_Silent_p.P878P			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	887					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGGCCATGGGAGGTGCTC	0.562000													12	81					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206690	41206690	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:41206690G>A	ENST00000399959.2	+	16	2750	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R616K	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	632	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R632I(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ggtagcagcagAGGATTTGGT	0.493000										HNSCC(61;0.18)			20	43					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42818480	42818480	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:42818480C>T	ENST00000598766.1	+	2	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000301204.3_Silent_p.F59F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	59						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GACTGGACTTCCGTTTCCGCT	0.587000													29	129					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370491	131370491	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:131370491C>G	ENST00000372739.3	+	34	4537	c.4427C>G	c.(4426-4428)tCa>tGa	p.S1476*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.S1476*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1476*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1476					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAAGGAGACTCACTGGACAGC	0.517000													88	77					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47863887	47863887	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:47863887C>T	ENST00000396105.1	-	14	5920	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1892K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1892							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATCCATTTCAGAAGCAAGC	0.522000													32	57					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42600451	42600451	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:42600451C>G	ENST00000372901.1	+	12	1701	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372899.1_Silent_p.L481L			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	481					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTTAGATCTCAAGTAAGTTT	0.338000													24	58					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068335	35068335	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:35068335C>T	ENST00000382002.5	-	9	1264	c.838G>A	c.(838-840)Gat>Aat	p.D280N	PRLR_ENST00000513753.1_Missense_Mutation_p.D280N|PRLR_ENST00000231423.3_Missense_Mutation_p.D280N|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.D280N|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.D280N|PRLR_ENST00000342362.5_Missense_Mutation_p.D179N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.D179N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	280					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGATGAGCATCAAATCCTTTT	0.418000													11	91					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645813	186645813	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:186645813G>C	ENST00000367468.5	-	7	892	c.756C>G	c.(754-756)gtC>gtG	p.V252V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	252					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAGTATCTTTGACTGTGGGAG	0.393000													249	47					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115713	5115713	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:5115713C>T	ENST00000315997.5	-	1	398	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.R104Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.R66Q|C16orf89_ENST00000350219.4_Missense_Mutation_p.R104Q|C16orf89_ENST00000474471.3_Missense_Mutation_p.R66Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	66						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TTCCAGCACTCGGACCCCCAC	0.602000													3	33					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38103836	38103836	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:38103836G>C	ENST00000308059.6	+	4	871	c.850G>C	c.(850-852)Gaa>Caa	p.E284Q	DLEC1_ENST00000452631.2_Missense_Mutation_p.E284Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.E284Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	284					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TAAGGCCAAAGAAAGGACCAG	0.493000													6	32					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609123	115609123	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:115609123C>G	ENST00000361384.2	-	2	2658	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E581Q	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	581	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTATCCCTTCTAATGCACTT	0.383000								Other identified genes with known or suspected DNA repair function					24	157					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102667764	102667764	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:102667764C>T	ENST00000315274.6	-	3	547	c.480G>A	c.(478-480)atG>atA	p.M160I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	160	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CAAAAGATATCATGATGTCTG	0.453000													8	40					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60087984	60087984	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:60087984G>C	ENST00000397786.2	-	9	1970	c.1894C>G	c.(1894-1896)Caa>Gaa	p.Q632E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	632					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						CTTGGAAGTTGAGGTGGTAAA	0.353000													17	36					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933037	48933037	+	Silent	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:48933037G>C	ENST00000356463.3	-	10	1254	c.816C>G	c.(814-816)ctC>ctG	p.L272L	WDR45_ENST00000322995.8_Silent_p.L282L|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000376372.3_Silent_p.L271L|WDR45_ENST00000376368.2_Silent_p.L272L|WDR45_ENST00000553851.1_Silent_p.L169L|AF196779.12_ENST00000376358.3_Silent_p.L169L|WDR45_ENST00000396681.4_Silent_p.L257L|WDR45_ENST00000485908.1_Silent_p.L236L	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	271					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGCGGCGGTTGAGGCGGGTAT	0.577000													8	1					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318606	19318606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:19318606C>G	ENST00000461366.1	+	12	1519	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	435							GTP binding|GTPase activity|zinc ion binding	p.S436*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGAACCTCTCAGGATGGATG	0.627000													11	12					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33439223	33439223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:33439223G>A	ENST00000305768.5	-	5	632	c.544C>T	c.(544-546)Caa>Taa	p.Q182*	CEP89_ENST00000590597.2_Nonsense_Mutation_p.Q182*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AACCCATCTTGATGAGAAATA	0.353000													7	42					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478148	42478148	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:42478148C>T	ENST00000434000.1	-	9	1345	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E433K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	433						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTTTTACTCTCTGGGGCATTC	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	141					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123426708	123426708	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:123426708G>A	ENST00000360772.3	-	17	2661	c.2283C>T	c.(2281-2283)ctC>ctT	p.L761L	MYLK_ENST00000360304.3_Silent_p.L761L|MYLK_ENST00000359169.1_Silent_p.L761L|MYLK_ENST00000475616.1_Silent_p.L761L|MYLK_ENST00000346322.5_Silent_p.L692L			Q15746	MYLK_HUMAN	myosin light chain kinase	761	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCTTTGCAGAGGGCTTTGC	0.582000													20	55					0	0	1	0	0
TYMP	1890	broad.mit.edu	37	22	50967977	50967977	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:50967977G>C	ENST00000252029.3	-	2	324	c.162C>G	c.(160-162)atC>atG	p.I54M	TYMP_ENST00000395680.1_Missense_Mutation_p.I54M|TYMP_ENST00000395678.3_Missense_Mutation_p.I54M|TYMP_ENST00000395681.1_Missense_Mutation_p.I54M	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	54					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	CGAAGCCCCTGATGTCCGCTT	0.682000													21	48					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35378951	35378951	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:35378951C>T	ENST00000311565.4	+	4	436	c.87C>T	c.(85-87)ctC>ctT	p.L29L	PPARD_ENST00000360694.3_Silent_p.L29L|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000418635.2_Silent_p.L29L|PPARD_ENST00000444397.1_Silent_p.L29L|PPARD_ENST00000337400.2_Silent_p.L29L|PPARD_ENST00000448077.2_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	29					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)	CCCCAGAGCTCAATGGGGGAC	0.627000													8	39					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52811720	52811720	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:52811720C>T	ENST00000273283.2	+	1	113	c.89C>T	c.(88-90)tCg>tTg	p.S30L	ITIH1_ENST00000542827.1_Missense_Mutation_p.S30L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	30					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCCTGGGCTCGGCTACAGGC	0.622000													4	25					0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30106176	30106176	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:30106176C>T	ENST00000585603.1	+	7	2854	c.552C>T	c.(550-552)ttC>ttT	p.F184F	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_Silent_p.F60F|POP4_ENST00000392279.3_Silent_p.F103F			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	184					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ACTGCGTGTTCACTGTGGAAA	0.373000													6	30					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35210538	35210538	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:35210538C>A	ENST00000156471.5	-	15	1488	c.1263G>T	c.(1261-1263)ttG>ttT	p.L421F		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	421						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCATCTGGTTCAACTGCTGAA	0.353000													11	29					1.58986e-06	1.64174e-06	1	1	0
BIRC5	332	broad.mit.edu	37	17	76212803	76212803	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:76212803G>A	ENST00000301633.4	+	4	480	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Missense_Mutation_p.S265L|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_Missense_Mutation_p.E94K	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	94					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GAAGCAGTTTGAAGAATTAAC	0.398000													15	85					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62334357	62334357	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:62334357C>T	ENST00000378019.3	-	7	1018	c.928G>A	c.(928-930)Gag>Aag	p.E310K	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.E260K			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	260	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCTCCTCCTCAGGAGCAGGG	0.582000													16	57					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513431	14513431	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:14513431C>G	ENST00000242786.5	+	12	1286	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	CD97_ENST00000357355.3_Silent_p.L353L|CD97_ENST00000358600.3_Silent_p.L309L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	402					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGCATCCTCTCCATCCAGA	0.577000													31	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089752	9089752	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:9089752G>C	ENST00000397910.4	-	1	2266	c.2063C>G	c.(2062-2064)tCa>tGa	p.S688*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	688	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAAAGCTGAGGACTGTAG	0.507000													14	74					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886324	57886324	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:57886324A>G	ENST00000302610.1	-	1	592	c.593T>C	c.(592-594)gTc>gCc	p.V198A	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAAGATGATGACAATCTCGAT	0.438000													6	36					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11416215	11416215	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:11416215G>C	ENST00000423059.4	-	27	5122	c.4871C>G	c.(4870-4872)tCc>tGc	p.S1624C	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATAAATCATGGAGACAATAAA	0.333000										HNSCC(18;0.044)			3	10					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323654	145323654	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:145323654G>A	ENST00000342960.5	+	27	3526	c.3491G>A	c.(3490-3492)aGa>aAa	p.R1164K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1164										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGTATTGCAGGAATTAAAAAG	0.468000													22	584					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186171	37186171	+	RNA	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:37186171C>T	ENST00000425901.2	+	0	13					NR_033753.2																						GCTCAGCATTCAGATTTGCCC	0.522000													8	29					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355600	45355600	+	Silent	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:45355600C>A	ENST00000359271.2	+	3	1636	c.1386C>A	c.(1384-1386)atC>atA	p.I462I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	462						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACCTCTTCATCAGCCTCTCCT	0.507000													14	133					0.0285812	0.0287415	1	1	0
PREPL	9581	broad.mit.edu	37	2	44548524	44548524	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:44548524C>T	ENST00000541738.1	-	14	2274	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PREPL_ENST00000378511.3_Missense_Mutation_p.E657K|PREPL_ENST00000409957.1_Missense_Mutation_p.E630K|PREPL_ENST00000378520.3_Missense_Mutation_p.E653K|PREPL_ENST00000409411.1_Missense_Mutation_p.E630K|SLC3A1_ENST00000260649.6_3'UTR|PREPL_ENST00000260648.6_Missense_Mutation_p.E719K|PREPL_ENST00000409936.1_Missense_Mutation_p.E719K|PREPL_ENST00000410081.1_Missense_Mutation_p.E719K|PREPL_ENST00000409272.1_Missense_Mutation_p.E719K	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	719					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTAAGATCCTCGAAAACACTG	0.343000													14	28					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618697	134618697	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:134618697G>A	ENST00000361675.2	+	5	1406	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	CALD1_ENST00000361388.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	393					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAAGCAGCTAGAAGAGAAAAA	0.433000													6	40					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160922432	160922432	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:160922432C>T	ENST00000368029.3	-	3	228	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	57	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCAGCGTTCCTTGATTTCTT	0.468000													221	45					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101819	82101819	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:82101819G>A	ENST00000199936.4	+	2	503	c.310G>A	c.(310-312)Gag>Aag	p.E104K	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	104					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GTATCTGGATGAGCTGGGCTT	0.532000													27	54					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388258	48388258	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:48388258C>T	ENST00000224600.4	-	1	2733	c.2620G>A	c.(2620-2622)Gga>Aga	p.G874R		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	874	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGCGCCTCCGGCCGTGGGC	0.642000													12	19					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472852	123472852	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:123472852C>T	ENST00000280562.5	-	19	3113	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	PITPNM2_ENST00000392428.1_Missense_Mutation_p.E697K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E976K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E976K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ACCGACACTTCCTTGCCATCC	0.657000													29	100					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33855053	33855053	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:33855053C>G	ENST00000307296.3	+	3	644	c.267C>G	c.(265-267)atC>atG	p.I89M	PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I89M			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	89	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CTATCCAGATCTGCTTGACAT	0.318000													40	118					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193558	72193558	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:72193558G>C	ENST00000356056.5	-	23	3596	c.3124C>G	c.(3124-3126)Ctg>Gtg	p.L1042V	MYO9A_ENST00000566885.1_Missense_Mutation_p.L662V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1023V|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1042V|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1042V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1042	IQ 2.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTGTCTCAGATGGAGGAAA	0.428000													7	46					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28060584	28060584	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:28060584G>A	ENST00000373954.6	+	4	346	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	FAM76A_ENST00000373949.1_Missense_Mutation_p.G82R|FAM76A_ENST00000010299.6_Missense_Mutation_p.G116R|FAM76A_ENST00000530324.1_Missense_Mutation_p.G82R|FAM76A_ENST00000234549.7_Missense_Mutation_p.G116R|FAM76A_ENST00000419687.2_Intron	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	82										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCATTTATTGGGAATAAATG	0.383000													11	39					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145617176	145617176	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:145617176G>C	ENST00000308860.6	+	10	1094	c.1050G>C	c.(1048-1050)caG>caC	p.Q350H		NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	350	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTGCTGAGCAGATATTTTACA	0.622000													16	100					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98938017	98938017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:98938017C>T	ENST00000556029.1	+	5	1029	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	225	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGCTATTCTCAAGCTGGAAT	0.403000													7	43					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046618	73046618	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:73046618T>G	ENST00000335350.6	+	5	1141	c.725T>G	c.(724-726)aTc>aGc	p.I242S	UNC5B_ENST00000373192.4_Missense_Mutation_p.I242S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	242	Ig-like C2-type.		I -> V (in dbSNP:rs34957097).		apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCACCGTCATCGTCTACGGT	0.652000													17	91					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100225560	100225560	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:100225560C>G	ENST00000462107.1	-	14	1862	c.1575G>C	c.(1573-1575)ctG>ctC	p.L525L	TFR2_ENST00000544242.1_Silent_p.L66L|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.L525L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	525					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGAGACTTGTCAGAAGGGGGC	0.602000													31	103					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49933757	49933757	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:49933757C>T	ENST00000296474.3	-	10	2547	c.2520G>A	c.(2518-2520)ggG>ggA	p.G840G	MST1R_ENST00000344206.4_Silent_p.G840G	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	840	IPT/TIG 3.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.G840G(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACTCAGATTCCCTGCCACCC	0.597000													25	100					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38976798	38976798	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:38976798C>T	ENST00000269576.5	-	3	841	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	278	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GCCAGCTCTTCAGTCAGGCTC	0.522000													17	105					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55602887	55602887	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr4:55602887G>A	ENST00000288135.5	+	19	2694	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	866	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.G866A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGTCTCAGGAAGCAGCCCC	0.473000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				42	49					0	0	1	0	0
GABARAP	11337	broad.mit.edu	37	17	7145647	7145647	+	Translation_Start_Site	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:7145647C>A	ENST00000302386.5	-	1	442	c.3G>T	c.(1-3)atG>atT	p.M1I	GABARAP_ENST00000573928.1_Start_Codon_SNP_p.M1I|CTD-2545G14.7_ENST00000570760.2_Intron	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	1	Interaction with beta-tubulin.				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding			breast(1)|lung(2)	3						ACACGAACTTCATCCTCCCGG	0.672000													27	18					2.46105e-21	2.62187e-21	1	1	0
THAP11	57215	broad.mit.edu	37	16	67876704	67876704	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:67876704C>T	ENST00000303596.1	+	1	492	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTTCCCGCTGCGCGGCGTCAA	0.687000													11	18					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099320	92099320	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:92099320C>G	ENST00000493463.2	-	1	1299	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.E126Q|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		126					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						acatgtttttctcttgcctga	0.468000													13	18					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188709	63188709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:63188709C>A	ENST00000399298.3	-	4	948	c.580G>T	c.(580-582)Gag>Tag	p.E194*	TMEM26_ENST00000399293.1_Nonsense_Mutation_p.E194*	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	194						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCTAGGGTCTCACTTGTGAAT	0.463000													11	50					0.0692343	0.0694926	1	1	0
FN1	2335	broad.mit.edu	37	2	216230280	216230280	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:216230280C>T	ENST00000354785.4	-	43	7461	c.7092G>A	c.(7090-7092)atG>atA	p.M2364I	FN1_ENST00000356005.4_Missense_Mutation_p.M2183I|FN1_ENST00000357867.4_Missense_Mutation_p.M2063I|FN1_ENST00000323926.6_Missense_Mutation_p.M2333I|FN1_ENST00000336916.4_Missense_Mutation_p.M2242I|FN1_ENST00000421182.1_Missense_Mutation_p.M2127I|FN1_ENST00000346544.3_Missense_Mutation_p.M2098I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000446046.1_Missense_Mutation_p.M2217I|FN1_ENST00000443816.1_Missense_Mutation_p.M2152I|FN1_ENST00000359671.1_Missense_Mutation_p.M2273I|FN1_ENST00000432072.2_Missense_Mutation_p.M2154I|FN1_ENST00000345488.5_Missense_Mutation_p.M2071I			P02751	FINC_HUMAN	fibronectin 1	2273					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGCTCATCATCTGGCCAT	0.468000													27	89					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702748	202702748	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:202702748C>A	ENST00000367265.3	-	23	4854	c.3690G>T	c.(3688-3690)gaG>gaT	p.E1230D	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1266D	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1230					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCAGAATTTTCTCTAATGGAG	0.522000													14	37					3.27435e-08	3.40078e-08	1	1	0
SNORD3A	780851	broad.mit.edu	37	17	19091383	19091383	+	RNA	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:19091383G>A	ENST00000365494.1	+	0	55																											aagtttctctgaacgtgtaga	0.507000													18	265					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458902	234458902	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:234458902G>C	ENST00000366618.3	+	8	1531	c.1386G>C	c.(1384-1386)aaG>aaC	p.K462N	SLC35F3_ENST00000366617.3_Missense_Mutation_p.K393N	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	393					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAGTGAGGAAGAAGGAGGAGC	0.587000											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	38					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826114	21826114	+	RNA	SNP	C	C	G	rs144380293	by1000genomes	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:21826114C>G	ENST00000426869.3	+	0	297					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TGACCACACTCCAGCCAAGGA	0.532000													9	38					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356667	37356667	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:37356667C>T	ENST00000217420.1	+	2	1226	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	321					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGTCTCAGATCTTCCTGCCTT	0.577000													12	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441024	179441024	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:179441024G>A	ENST00000589042.1	-	326	70059	c.69835C>T	c.(69835-69837)Cat>Tat	p.H23279Y	TTN_ENST00000591111.1_Missense_Mutation_p.H21638Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14339Y|TTN_ENST00000460472.2_Missense_Mutation_p.H14214Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H14406Y|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H20711Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21638	Fibronectin type-III 69.						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)			ACTTTTTGATGCTCCACGACA	0.443000													3	36					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170870984	170870984	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:170870984G>A	ENST00000392092.2	+	3	439	c.160G>A	c.(160-162)Gag>Aag	p.E54K	TBP_ENST00000230354.6_Missense_Mutation_p.E54K|TBP_ENST00000540980.1_Missense_Mutation_p.E34K	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	54					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TATTTTGGAAGAGCAACAAAG	0.527000													6	64					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045650	47045650	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:47045650G>C	ENST00000450053.3	+	37	6144	c.5965G>C	c.(5965-5967)Gag>Cag	p.E1989Q	NBEAL2_ENST00000383740.2_Missense_Mutation_p.E268Q|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1805Q	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1989							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTCAGCACTTGAGCTCTTCTT	0.597000													59	215					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88891179	88891179	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:88891179C>T	ENST00000268695.5	-	11	1326	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	GALNS_ENST00000542788.1_Missense_Mutation_p.R338K	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	413						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CTGTACCTGTCTGAAGTTCTC	0.642000													9	89					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494390	149494390	+	RNA	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:149494390C>G	ENST00000378016.2	+	0	6861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGGCCCTCTCCTCTGCCC	0.667000													12	51					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652371	115652371	+	Missense_Mutation	SNP	C	C	G	rs111991367	byFrequency	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:115652371C>G	ENST00000374228.4	-	1	822	c.591G>C	c.(589-591)caG>caC	p.Q197H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	197						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCCCAGCCATCTGCTTGAAGA	0.632000													26	11					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21209161	21209161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:21209161G>T	ENST00000574002.1	-	19	2503	c.2021C>A	c.(2020-2022)tCa>tAa	p.S674*	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.S674*|ZP2_ENST00000574091.1_Nonsense_Mutation_p.S665*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	674					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TAGATCAGATGAGCCGACACC	0.483000													13	64					0.00010058	0.000102679	1	1	0
NUP205	23165	broad.mit.edu	37	7	135329713	135329713	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:135329713G>T	ENST00000285968.6	+	40	5656	c.5630G>T	c.(5629-5631)cGg>cTg	p.R1877L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1877					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTAGCAAGACGGCGCTTGGTG	0.393000											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	129					3.07112e-06	3.16525e-06	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8870985	8870985	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:8870985C>G	ENST00000256707.3	-	30	5362	c.5181G>C	c.(5179-5181)gaG>gaC	p.E1727D	KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1628D|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1708D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1708D	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1727					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTTTAGATTCTCATTCTGAA	0.463000													38	60					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47976001	47976001	+	Silent	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr21:47976001G>T	ENST00000318711.7	+	29	3681	c.3498G>T	c.(3496-3498)gtG>gtT	p.V1166V	DIP2A_ENST00000427143.2_Silent_p.V1101V|DIP2A_ENST00000417564.2_Silent_p.V1165V|DIP2A_ENST00000400274.1_Silent_p.V1161V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1165					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TAGCGGGAGTGAAGGTAGGTC	0.493000													20	66					4.63292e-17	4.9162e-17	1	1	0
ZNF131	7690	broad.mit.edu	37	5	43174936	43174936	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:43174936C>G	ENST00000509634.1	+	7	1927	c.1471C>G	c.(1471-1473)Cta>Gta	p.L491V	ZNF131_ENST00000306938.4_Missense_Mutation_p.L491V|ZNF131_ENST00000509156.1_Missense_Mutation_p.L525V|ZNF131_ENST00000505606.2_Missense_Mutation_p.L491V|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.L525V			P52739	ZN131_HUMAN	zinc finger protein 131	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGTGAGTTATCTAGAAGTGGG	0.483000													10	40					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153762290	153762290	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:153762290C>G	ENST00000393562.2	-	7	1203	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	G6PD_ENST00000393564.2_Missense_Mutation_p.E244Q|G6PD_ENST00000369620.2_Missense_Mutation_p.E244Q	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	244			E -> K (in Corum; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCGACCCTCAGTGCCAAAG	0.597000													30	22					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124102337	124102337	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:124102337G>A	ENST00000238146.4	+	11	1132	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	DDX55_ENST00000538744.1_Missense_Mutation_p.R330H|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	361	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CGCACAGCTCGCATTGGCCAC	0.552000													3	56					0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177031540	177031540	+	Silent	SNP	C	C	T	rs142951817	byFrequency	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:177031540C>T	ENST00000029410.5	+	2	522	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	137					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TGGACCACTTCAGGTAGCGCC	0.682000													26	24					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30942385	30942385	+	Silent	SNP	T	T	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:30942385T>C	ENST00000597505.1	-	23	3230	c.3231A>G	c.(3229-3231)gaA>gaG	p.E1077E	DCDC1_ENST00000339794.5_Silent_p.E156E|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTCTTCCGGTTCTGTAACTT	0.413000													21	36					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984453	12984453	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:12984453C>T	ENST00000251472.4	+	26	3521	c.3482C>T	c.(3481-3483)tCg>tTg	p.S1161L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1161					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCAGCCTCGAGCACGCCC	0.687000													6	19					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45016173	45016173	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:45016173C>T	ENST00000258787.7	-	3	524	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	130	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTCTCCACCTCAGCCCTCTGG	0.612000													23	46					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021594	16021594	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr8:16021594C>T	ENST00000350896.3	-	5	994	c.797G>A	c.(796-798)aGa>aAa	p.R266K	MSR1_ENST00000536385.1_Missense_Mutation_p.R40K|MSR1_ENST00000381998.4_Missense_Mutation_p.R266K|MSR1_ENST00000445506.2_Missense_Mutation_p.R284K|MSR1_ENST00000355282.2_Missense_Mutation_p.R266K|MSR1_ENST00000262101.5_Missense_Mutation_p.R266K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	266					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGTGATATTTCTCAAGGTCTG	0.303000													6	27					0	0	1	0	0
STK32A	202374	broad.mit.edu	37	5	146754652	146754652	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:146754652G>A	ENST00000397936.3	+	11	1236		c.e11-1		STK32A_ENST00000398523.3_Splice_Site	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A								ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTTGCAGAAAGGCAGGC	0.398000													3	9					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55352306	55352306	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:55352306C>G	ENST00000536015.1	-	14	1590	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E491Q	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	491					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGTCTTACCTCTATTTTGTTG	0.493000													8	60					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812606	2812606	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:2812606C>T	ENST00000301740.8	+	11	2626	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	693	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						AGGGAGGTCTCGGTCTAGGAC	0.572000													14	73					0	0	1	0	0
PLD6	201164	broad.mit.edu	37	17	17106258	17106258	+	Silent	SNP	G	G	A	rs142631639	byFrequency	TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:17106258G>A	ENST00000321560.3	-	2	610	c.582C>T	c.(580-582)taC>taT	p.Y194Y	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	194					DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity			endometrium(1)|lung(1)	2						AAAGCCGCACGTACTCGTCGT	0.507000													22	70					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726366	91726366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:91726366G>T	ENST00000359028.2	+	41	10330	c.10105G>T	c.(10105-10107)Gag>Tag	p.E3369*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E3315*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E3365*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3369					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTGTTAAATGAGACTGAAAA	0.443000			T	BRAF	papillary thyroid								7	36					5.18039e-06	5.3188e-06	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137766079	137766079	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:137766079G>A	ENST00000314358.5	+	22	5235	c.5035G>A	c.(5035-5037)Gat>Aat	p.D1679N	KDM3B_ENST00000394866.1_Missense_Mutation_p.D1335N|KDM3B_ENST00000542866.1_Missense_Mutation_p.D711N	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1679	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTTCCTAGGTGATGCTGTTTT	0.527000													27	70					0	0	1	0	0
SETD8	387893	broad.mit.edu	37	12	123875224	123875224	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:123875224G>A	ENST00000402868.3	+	3	606	c.180G>A	c.(178-180)ccG>ccA	p.P60P	SETD8_ENST00000330479.4_Silent_p.P60P|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	101	Ala-rich.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACATGAGCCCGAACAAATGCT	0.443000													11	47					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31668686	31668686	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:31668686G>A	ENST00000331728.4	+	13	1668	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	LIMK2_ENST00000340552.4_Silent_p.L497L|LIMK2_ENST00000444929.2_Silent_p.L272L|LIMK2_ENST00000333611.4_Silent_p.L497L|LIMK2_ENST00000406516.1_Silent_p.L440L|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	518	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGAGATGCTGAACGGTGAGT	0.612000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237619914	237619914	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:237619914C>T	ENST00000366574.2	+	16	1808	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	RYR2_ENST00000360064.6_Silent_p.L495L|RYR2_ENST00000542537.1_Silent_p.L481L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	497					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATCAACCTCGTGCTTGAGT	0.413000													24	32					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884270	39884270	+	Silent	SNP	C	C	T	rs145267339		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:39884270C>T	ENST00000341184.6	+	2	1133	c.918C>T	c.(916-918)aaC>aaT	p.N306N		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	306					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCTGCGCAACCTGCGGCCCG	0.677000													52	65					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69716710	69716710	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr10:69716710G>C	ENST00000395198.3	-	18	2221	c.1974C>G	c.(1972-1974)atC>atG	p.I658M	HERC4_ENST00000277817.6_Missense_Mutation_p.I548M|HERC4_ENST00000412272.2_Missense_Mutation_p.I658M|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.I650M	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	658					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GATATGTACAGATTGTAACAG	0.328000													24	101					0	0	1	0	0
PSMB7	5695	broad.mit.edu	37	9	127115946	127115946	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:127115946G>A	ENST00000259457.3	-	8	778	c.765C>T	c.(763-765)ctC>ctT	p.L255L	PSMB7_ENST00000498485.1_5'UTR	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	255					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|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						TTTTCTCAGTGAGGACTGCAG	0.507000													17	20					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3278776	3278776	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:3278776G>C	ENST00000252032.9	-	22	1896	c.1829C>G	c.(1828-1830)tCa>tGa	p.S610*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.S348*|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	610										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGGAAGCAATGAGCTTTTGAA	0.433000													10	52					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704981	38704981	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:38704981G>A	ENST00000359357.3	+	4	504	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E84K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E301K					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						GGGAGAATCTGAAAAACATAT	0.318000													25	87					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520048	23520048	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:23520048C>T	ENST00000374619.1	-	1	1174	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.R222Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	222					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCGGGCAGCCCGGTAGATCCG	0.592000													5	38					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153209864	153209864	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:153209864C>T	ENST00000412763.1	-	2	203	c.34G>A	c.(34-36)Gag>Aag	p.E12K	RENBP_ENST00000369997.3_Missense_Mutation_p.E12K|RENBP_ENST00000393700.3_Missense_Mutation_p.E12K			P51606	RENBP_HUMAN	renin binding protein	12					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)				N-Acetyl-D-glucosamine(DB00141)	CGCTCTTTCTCCATGTCCTAG	0.657000													16	38					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910364	32910364	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr7:32910364C>T	ENST00000304056.4	-	4	1164	c.465G>A	c.(463-465)atG>atA	p.M155I	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	155										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGTGCTCCACCATTCTTTTAG	0.358000													14	79					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128844787	128844787	+	Silent	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr5:128844787C>G	ENST00000274487.4	+	3	892	c.747C>G	c.(745-747)ctC>ctG	p.L249L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	249					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTATACAGCTCAATGAGGACT	0.343000													7	39					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159191829	159191829	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:159191829C>T	ENST00000367075.3	-	10	1225	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	EZR_ENST00000392177.4_Missense_Mutation_p.D321N|EZR_ENST00000337147.7_Missense_Mutation_p.D353N	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	353	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCTCATAGTCCTGCAGCCGC	0.552000			T	ROS1	NSCLC								11	88					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43658774	43658774	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:43658774C>G	ENST00000360835.4	-	5	688	c.562G>C	c.(562-564)Gac>Cac	p.D188H	SCUBE1_ENST00000290460.7_Missense_Mutation_p.D188H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 4 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCCTGCAGTCGCAGGCCACC	0.572000													15	89					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355597	45355597	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:45355597C>T	ENST00000359271.2	+	3	1633	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	461						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCAACCTCTTCATCAGCCTCT	0.522000													15	132					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592488	50592488	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr18:50592488G>C	ENST00000442544.2	+	7	1829	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q	DCC_ENST00000412726.1_Missense_Mutation_p.E253Q|DCC_ENST00000581580.1_Missense_Mutation_p.E60Q|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	405	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGCTGAAAATGAGGCTGGAAA	0.443000													19	81					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33048612	33048612	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:33048612G>T	ENST00000418931.2	+	2	380	c.264G>T	c.(262-264)tgG>tgT	p.W88C	HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.W88C|HLA-DPB1_ENST00000471184.1_3'UTR	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	88	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGGAGTACTGGAACAGCCAGA	0.652000													12	61					1.9806e-07	2.04916e-07	1	1	0
GRIN3B	116444	broad.mit.edu	37	19	1004866	1004866	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:1004866C>G	ENST00000234389.3	+	3	1385	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	456					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTCGGCCACCCTGGACGCACT	0.667000													19	90					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68560835	68560835	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:68560835G>A	ENST00000265641.5	-	9	1069	c.915C>T	c.(913-915)tcC>tcT	p.S305S	CPT1A_ENST00000539743.1_Silent_p.S305S|CPT1A_ENST00000376618.2_Silent_p.S305S|CPT1A_ENST00000540367.1_Silent_p.S305S|CPT1A_ENST00000538994.1_Silent_p.S57S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	305					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCCACTGAGCGGAGCAGAGTG	0.488000													7	76					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554530	52554530	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr3:52554530C>A	ENST00000321725.6	+	53	5690	c.5614C>A	c.(5614-5616)Cgc>Agc	p.R1872S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1872					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTTGGTGCTCGCTGTGACCA	0.647000													4	46					0.014758	0.0148685	1	1	0
CDK8	1024	broad.mit.edu	37	13	26923215	26923215	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr13:26923215C>G	ENST00000381527.3	+	3	714	c.211C>G	c.(211-213)Cga>Gga	p.R71G	CDK8_ENST00000536792.1_Missense_Mutation_p.R71G	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	71	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GCAGTTACTTCGAGAGCTTAA	0.383000													30	74					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992591	19992591	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:19992591C>T	ENST00000289753.1	+	1	812	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	115					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.L115L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCTCCATCCTCAACCTCTGCC	0.682000													12	54					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672000											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	8	47					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91432632	91432632	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr15:91432632C>T	ENST00000328850.3	+	6	907	c.765C>T	c.(763-765)atC>atT	p.I255I	FES_ENST00000444422.2_Silent_p.I255I|FES_ENST00000414248.2_Silent_p.I197I|FES_ENST00000450438.2_Silent_p.I197I|FES_ENST00000394300.3_Silent_p.I197I|FES_ENST00000394302.1_Silent_p.I197I	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	255	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGCCCGCATCCAGCCTGAGG	0.632000													9	60					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20212397	20212397	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr6:20212397G>A	ENST00000324607.7	-	1	233	c.69C>T	c.(67-69)ctC>ctT	p.L23L	MBOAT1_ENST00000541730.1_5'UTR|RP11-239H6.2_ENST00000449143.2_RNA|MBOAT1_ENST00000536798.1_Silent_p.L23L	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	23					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GGAGCTCGCTGAGCGGGTGCA	0.697000													5	10					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38446352	38446352	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:38446352C>G	ENST00000373019.4	-	8	1551	c.596G>C	c.(595-597)aGa>aCa	p.R199T	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.R146T	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	199					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCTTCACTCTATCTGTGTA	0.438000													10	68					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356607	37356607	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:37356607C>T	ENST00000217420.1	+	2	1166	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	301					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGTTCTACATCGACGTCAAGA	0.557000													11	51					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35609868	35609868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr17:35609868G>A	ENST00000353139.5	-	15	2402	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	ACACA_ENST00000394406.2_Nonsense_Mutation_p.Q604*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.Q546*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.Q526*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	604					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTCATCTGAAAGCTTTCA	0.423000													30	123					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472892	123472892	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr12:123472892C>T	ENST00000280562.5	-	19	3073	c.2868G>A	c.(2866-2868)atG>atA	p.M956I	PITPNM2_ENST00000392428.1_Missense_Mutation_p.M683I|PITPNM2_ENST00000542749.1_Missense_Mutation_p.M962I|PITPNM2_ENST00000320201.4_Missense_Mutation_p.M962I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTCATGCCTCATGACCTGGG	0.637000													22	90					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37443323	37443323	+	Silent	SNP	C	C	T			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:37443323C>T	ENST00000234170.5	-	8	2485	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	AC007390.5_ENST00000438935.2_3'UTR	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	780					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)				GTTTTCTTTTCGGCTGCATCA	0.284000													11	58					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30734625	30734625	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr20:30734625G>C	ENST00000217315.5	+	9	1210	c.870G>C	c.(868-870)aaG>aaC	p.K290N	TM9SF4_ENST00000398022.2_Missense_Mutation_p.K307N			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	307						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCTCCGGAAGGACATTGCCA	0.542000													8	20					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046285	69046285	+	Missense_Mutation	SNP	T	T	C	rs143413666		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:69046285T>C	ENST00000295381.3	+	9	1450	c.1031T>C	c.(1030-1032)aTg>aCg	p.M344T	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.M338T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.M38T|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.M338T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.M337T|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.M305T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.M345T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	344	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGATGACTATGATGATCAGA	0.502000													31	146					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19168303	19168303	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr19:19168303G>A	ENST00000535612.1	+	9	1804	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	ARMC6_ENST00000392335.2_Missense_Mutation_p.E433K|ARMC6_ENST00000269932.6_Missense_Mutation_p.E433K|ARMC6_ENST00000392336.3_Missense_Mutation_p.E458K|ARMC6_ENST00000546344.1_Missense_Mutation_p.E365K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	458							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)			CCTGGGGGCTGAGGCACTCAT	0.632000													20	51					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3452307	3452307	+	Silent	SNP	G	G	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:3452307G>A	ENST00000268655.4	+	1	888	c.303G>A	c.(301-303)gaG>gaA	p.E101E	ZNF174_ENST00000571936.1_Silent_p.E101E|ZNF174_ENST00000575752.1_Silent_p.E101E|ZNF174_ENST00000344823.5_Silent_p.E101E|ZNF174_ENST00000572544.1_Silent_p.E101E	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	101	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGCCCCCGGAGATCCAGGCTC	0.557000													18	60					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43913743	43913755	+	Splice_Site	DEL	ACCCCAGGCTACA	ACCCCAGGCTACA	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:43913743_43913755delACCCCAGGCTACA	ENST00000562955.1	+	68	9392_9398	c.9392_9398delACCCCAGGCTACA	c.(9391-9399)caccccagg>cg	p.HPR3131fs	SZT2_ENST00000372442.1_Splice_Site_p.HPR2289fs|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3188						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGCTCCCCACCCCAGGCTACAGTTCTTCGTG	0.629													8	25	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393													7	46	---	---	---	---					
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	RNA	DEL	T	T	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:160905975delT	ENST00000356006.3	+	0	629																											cttcttcttcttttttttttt	0.393													3	6	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													10	640	---	---	---	---					
AGXT	189	broad.mit.edu	37	2	241818162	241818162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr2:241818162delC	ENST00000307503.3	+	11	1490	c.1103delC	c.(1102-1104)gccfs	p.A368fs		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	368					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCTGCAATGCCACCCGCGAG	0.701													2	4	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													2	4	---	---	---	---					
CTNND1	1500	broad.mit.edu	37	11	57576777	57576781	+	Frame_Shift_Del	DEL	TCTGC	TCTGC	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:57576777_57576781delTCTGC	ENST00000524630.1	+	14	2769_2773	c.2256_2260delTCTGC	c.(2254-2262)aatctgccafs	p.LP753fs	CTNND1_ENST00000526938.1_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.LP430fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.LP430fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.LP430fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.LP436fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.LP705fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.LP436fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.LP705fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.LP652fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.LP753fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.LP759fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.LP699fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.LP658fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.LP658fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.LP759fs			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	759					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGTAAAGAATCTGCCAGGAGGACA	0.415													28	88	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533342	63533342	+	RNA	DEL	C	C	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr11:63533342delC	ENST00000433688.1	-	0	592							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										tcttcctcctcctcctcctcc	0.662													2	4	---	---	---	---					
AC002331.1	0	broad.mit.edu	37	16	26599065	26599068	+	RNA	DEL	ACAG	ACAG	-	rs71134607		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:26599065_26599068delACAG	ENST00000443373.1	-	0	104																											ACATACAGACacagacagacagac	0.353													2	4	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81201441	81201441	+	RNA	DEL	G	G	-	rs35726804		TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr16:81201441delG	ENST00000533478.1	-	0	1149				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						tctgcaagatggggggggaaa	0.567													2	4	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													3	3	---	---	---	---					
XIST	7503	broad.mit.edu	37	X	73061949	73061950	+	RNA	INS	-	-	A			TCGA-UY-A9PH-01A-11D-A38G-08	TCGA-UY-A9PH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5883c42e-d02f-4e46-a0d8-c2e1afd3cd78	c9fb274f-f2a4-4695-ac3c-685298eec12e	g.chrX:73061949_73061950insA	ENST00000429829.1	-	0	10638_10639					NR_001564.2																						ATTTTGGCTTCAAAAAAATAAT	0.351													5	5	---	---	---	---					
