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
ABCG8	64241	broad.mit.edu	37	2	44104784	44104784	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:44104784A>T	ENST00000272286.2	+	12	1931	c.1841A>T	c.(1840-1842)aAa>aTa	p.K614I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	614	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAACTTATAAAATGCCTCTC	0.517000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	32					0	0	1	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90109036	90109036	+	RNA	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:90109036G>A	ENST00000390271.2	+	0	327																											CCTGGAAGCTGAAGATGCTGC	0.498000													9	25					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											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)		TTTCACAACAGTAAGTTAAGA	0.423000													8	53					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108641866	108641866	+	Missense_Mutation	SNP	A	A	C	rs113612238		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:108641866A>C	ENST00000218006.2	-	11	2478	c.2187T>G	c.(2185-2187)ttT>ttG	p.F729L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	729	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATCTCCTGCAAAAGAACCTA	0.502000													25	11					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176801	140176801	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:140176801C>G	ENST00000526136.1	+	1	2252	c.2252C>G	c.(2251-2253)tCg>tGg	p.S751W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.S751W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S751W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCTTACTCGCAGCAGAGG	0.667000													16	28					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113871401	113871401	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:113871401C>G	ENST00000297405.5	-	11	1972	c.1728G>C	c.(1726-1728)tgG>tgC	p.W576C	CSMD3_ENST00000343508.3_Missense_Mutation_p.W536C|CSMD3_ENST00000352409.3_Missense_Mutation_p.W576C|CSMD3_ENST00000455883.2_Missense_Mutation_p.W472C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	576	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTGATGACCCAGACACATT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	54					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688255	18688255	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:18688255G>C	ENST00000406451.3	+	11	1557	c.1407G>C	c.(1405-1407)caG>caC	p.Q469H	HDAC9_ENST00000401921.1_Missense_Mutation_p.Q428H|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q425H|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q472H|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q456H|HDAC9_ENST00000432645.2_Missense_Mutation_p.Q469H|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q469H|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q467H|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q441H|HDAC9_ENST00000524023.1_Missense_Mutation_p.Q392H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	469					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAACACCAGCAATTCTTGG	0.498000													16	23					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444271	23444271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:23444271G>A	ENST00000262713.2	-	5	1657	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	AJUBA_ENST00000397388.3_Nonsense_Mutation_p.R11*|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R428*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	428	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ACAATGCATCGGAAACAGCCT	0.532000													52	20					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11186691	11186691	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:11186691A>T	ENST00000361445.4	-	46	6590	c.6514T>A	c.(6514-6516)Ttg>Atg	p.L2172M	MTOR_ENST00000376838.1_Missense_Mutation_p.L377M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2172					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						ATAAGTGTCAATTTCCGGGGC	0.512000													20	29					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33180132	33180132	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:33180132C>T	ENST00000374656.4	+	7	1385	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	393	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAAGGTGTCCCGGCCACTGGA	0.577000													4	7					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	53					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27662654	27662654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:27662654C>T	ENST00000233557.3	+	12	1757	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	NRBP1_ENST00000379852.3_Nonsense_Mutation_p.Q309*|NRBP1_ENST00000379863.3_Nonsense_Mutation_p.Q317*			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	309	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AAAGTGCCTGCAGTCTGAGCC	0.502000													18	133					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32889111	32889111	+	Silent	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:32889111A>G	ENST00000266087.7	+	7	1314	c.987A>G	c.(985-987)gtA>gtG	p.V329V	FBXO7_ENST00000382058.3_Silent_p.V250V|FBXO7_ENST00000397426.1_Silent_p.V215V	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	329	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACCAGATGTATTTGGGTTGG	0.438000													42	91					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65050172	65050172	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:65050172T>A	ENST00000226021.3	+	2	361	c.290T>A	c.(289-291)tTc>tAc	p.F97Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	97					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	ATCTTCGAATTCACCACTCAG	0.537000													29	40					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654911	3654911	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:3654911C>A	ENST00000356518.2	-	7	862	c.621G>T	c.(619-621)agG>agT	p.R207S	ADAM33_ENST00000350009.2_Missense_Mutation_p.R207S|ADAM33_ENST00000379861.4_Missense_Mutation_p.R207S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	207					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACTTCCGGGTCCTGCGCGCTT	0.642000													17	49					2.23348e-06	2.33202e-06	1	1	0
EMID1	129080	broad.mit.edu	37	22	29627089	29627089	+	Silent	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:29627089C>A	ENST00000334018.6	+	6	734	c.546C>A	c.(544-546)ccC>ccA	p.P182P	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Silent_p.P182P|EMID1_ENST00000404755.3_Silent_p.P182P	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	180	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCTGGGGTCCCCCTCCTGCCC	0.622000													29	48					1.75199e-13	1.91371e-13	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059405	248059405	+	Nonsense_Mutation	SNP	G	G	T	rs139271211		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:248059405G>T	ENST00000537741.1	+	3	774	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.E173*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657000													27	33					2.36697e-06	2.45336e-06	1	1	0
MGA	23269	broad.mit.edu	37	15	41961802	41961802	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:41961802C>T	ENST00000219905.7	+	2	891	c.710C>T	c.(709-711)aCa>aTa	p.T237I	MGA_ENST00000389936.4_Missense_Mutation_p.T237I|MGA_ENST00000570161.1_Missense_Mutation_p.T237I|MGA_ENST00000566586.1_Missense_Mutation_p.T237I|MGA_ENST00000545763.1_Missense_Mutation_p.T237I|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	237						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTTGCAGTAACAGCTTATCAG	0.428000													15	19					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152311418	152311418	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:152311418G>A	ENST00000243326.4	+	21	2837	c.2354G>A	c.(2353-2355)aGa>aAa	p.R785K	RIF1_ENST00000453091.2_Missense_Mutation_p.R785K|RIF1_ENST00000430328.2_Missense_Mutation_p.R785K|RIF1_ENST00000428287.2_Missense_Mutation_p.R785K|RIF1_ENST00000444746.2_Missense_Mutation_p.R785K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	785					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCACCACAGAGACCTTCAGAT	0.318000													6	34					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57244333	57244333	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:57244333G>C	ENST00000205214.6	-	4	829	c.649C>G	c.(649-651)Cca>Gca	p.P217A	AASDH_ENST00000602986.1_Missense_Mutation_p.P64A|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.P217A|AASDH_ENST00000451613.1_Missense_Mutation_p.P217A|AASDH_ENST00000513376.1_Missense_Mutation_p.P117A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	217					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGGATATTTGGTACTATACAC	0.423000													32	46					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840682	153840682	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:153840682G>T	ENST00000356448.4	+	2	1185	c.901G>T	c.(901-903)Gac>Tac	p.D301Y	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.D301Y|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.D301Y	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	301					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGTCGATAACGACGTGGATAG	0.592000													5	9					1.23904e-05	1.27495e-05	1	1	0
HBD	3045	broad.mit.edu	37	11	5255582	5255582	+	Missense_Mutation	SNP	C	C	G	rs35152987	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:5255582C>G	ENST00000380299.3	-	1	296	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P	HBD_ENST00000292901.3_Missense_Mutation_p.A28P	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	28			A -> S (in Yialousa; dbSNP:rs35152987).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCCAGGGCCTCACCACCA	0.517000													19	38					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518918	73518918	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:73518918G>A	ENST00000436467.2	-	2	1515	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	EGR4_ENST00000545030.1_Silent_p.H479H			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	375						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGCCTTGGCGTGCGGCCGCG	0.716000													5	14					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519707	64519707	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:64519707G>C	ENST00000358025.3	+	48	9306	c.9076G>C	c.(9076-9078)Gaa>Caa	p.E3026Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E3026Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3059Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3026			E -> D (in dbSNP:rs34843668).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAGTATTTGAAAAAGAAAA	0.318000													25	37					0	0	1	0	0
C11orf54	28970	broad.mit.edu	37	11	93483549	93483549	+	Silent	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:93483549C>A	ENST00000528288.1	+	3	328	c.93C>A	c.(91-93)gtC>gtA	p.V31V	C11orf54_ENST00000540113.1_Silent_p.V12V|C11orf54_ENST00000331239.4_Silent_p.V31V|C11orf54_ENST00000354421.3_Silent_p.V31V|C11orf54_ENST00000528099.1_Silent_p.V31V	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	31						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGATGTCCAGGTCTCTG	0.338000													20	14					3.5997e-14	3.99342e-14	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941528	22941528	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:22941528T>G	ENST00000397104.3	-	5	909	c.910A>C	c.(910-912)Aaa>Caa	p.K304Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.K395Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGTAGGGTTTCTGTCCAGTA	0.363000													8	45					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423000													3	35					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179980420	179980420	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:179980420C>G	ENST00000393356.1	+	6	758	c.334C>G	c.(334-336)Cta>Gta	p.L112V	CNOT6_ENST00000502447.1_Intron|CNOT6_ENST00000261951.4_Missense_Mutation_p.L112V			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	112					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTTACGAGTTCTACCTTTTGA	0.353000													5	23					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23235659	23235659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:23235659C>T	ENST00000400191.3	+	13	2515	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	EPHB2_ENST00000374627.1_Nonsense_Mutation_p.Q828*|EPHB2_ENST00000374630.3_Nonsense_Mutation_p.Q833*|EPHB2_ENST00000374632.3_Nonsense_Mutation_p.Q834*	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	833	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CATGACCAACCAGGATGTAAG	0.592000													15	37					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160267363	160267363	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:160267363C>T	ENST00000241704.7	-	20	2379	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	COPA_ENST00000368069.3_Missense_Mutation_p.R726H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	717					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCATCTTGCGAAGTTTTTC	0.438000													26	66					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022014	18022014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr22:18022014C>T	ENST00000262608.8	+	15	2119	c.2119C>T	c.(2119-2121)Cag>Tag	p.Q707*	CECR2_ENST00000400585.2_Nonsense_Mutation_p.Q565*|CECR2_ENST00000400573.4_Nonsense_Mutation_p.Q706*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	748					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGCTCCAGCTCAGTTCCAGCC	0.572000													6	12					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852263	20852263	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:20852263C>T	ENST00000262715.5	-	24	3508	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	TEP1_ENST00000556935.1_Silent_p.L1048L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1156					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGGCAGCATCAGCCGTTGCA	0.647000													36	42					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172409921	172409921	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:172409921G>T	ENST00000321348.4	+	3	666	c.468G>T	c.(466-468)atG>atT	p.M156I	CYBRD1_ENST00000375252.3_Missense_Mutation_p.A87S|CYBRD1_ENST00000409484.1_Missense_Mutation_p.M98I	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	156	Cytochrome b561.		M -> T (in dbSNP:rs16859487).		cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CATTTCTCATGCCCATACATG	0.393000													3	49					1	1	1	1	0
ABCG8	64241	broad.mit.edu	37	2	44104782	44104782	+	Nonsense_Mutation	SNP	T	T	A	rs147582834	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:44104782T>A	ENST00000272286.2	+	12	1929	c.1839T>A	c.(1837-1839)taT>taA	p.Y613*		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	613	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAGAACTTATAAAATGCCTC	0.522000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	33					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6815960	6815960	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:6815960A>G	ENST00000332601.3	-	1	1168	c.980T>C	c.(979-981)gTa>gCa	p.V327A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCCTTCTATACATTTCTGCT	0.458000													30	41					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459376	89459376	+	RNA	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:89459376G>C	ENST00000390256.2	-	0	264																											AAGCATACTTGATGAGGAGCT	0.527000													15	63					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27348289	27348289	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr21:27348289G>A	ENST00000358918.3	-	10	1476	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	APP_ENST00000359726.3_Missense_Mutation_p.A370V|APP_ENST00000357903.3_Missense_Mutation_p.A407V|APP_ENST00000354192.3_Missense_Mutation_p.A295V|APP_ENST00000348990.5_Missense_Mutation_p.A351V|APP_ENST00000448388.2_Missense_Mutation_p.A316V|APP_ENST00000346798.3_Missense_Mutation_p.A426V|APP_ENST00000440126.3_Missense_Mutation_p.A402V|APP_ENST00000439274.2_Missense_Mutation_p.A370V	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	426					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTTCTTATCAGCTTTAGGCAA	0.378000													12	34					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96875682	96875682	+	Silent	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:96875682C>A	ENST00000394166.3	+	1	1737	c.348C>A	c.(346-348)cgC>cgA	p.R116R	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	116					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			ACACGTGCCGCGCCAACCGGA	0.602000													18	23					1.33834e-09	1.45072e-09	1	1	0
ACTBL2	345651	broad.mit.edu	37	5	56777724	56777724	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:56777724C>G	ENST00000423391.1	-	1	912	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	271						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCACTGGACTCAATGCCCAGA	0.502000													10	30					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr9:139815644G>A	ENST00000359662.3	+	9	1316	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H|TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592000													4	63					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197138837	197138837	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:197138837T>A	ENST00000260983.2	-	16	3328	c.3146A>T	c.(3145-3147)gAt>gTt	p.D1049V	HECW2_ENST00000409111.1_Missense_Mutation_p.D693V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1049	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGTCGAGAATCTTCTCCTAC	0.448000													14	15					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147014272	147014272	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:147014272G>T	ENST00000218200.8	+	9	1099	c.870G>T	c.(868-870)agG>agT	p.R290S	FMR1_ENST00000370475.4_Missense_Mutation_p.R290S|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370470.1_Missense_Mutation_p.R290S|FMR1_ENST00000334557.6_Missense_Mutation_p.R290S|FMR1_ENST00000370471.3_Missense_Mutation_p.R290S|FMR1_ENST00000439526.2_Missense_Mutation_p.R290S|FMR1_ENST00000370477.1_Missense_Mutation_p.R290S	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	290	KH 2.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTCCAAGGAACTTAGTAG	0.318000									Fragile X syndrome				6	38					0.00116845	0.00119366	1	1	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232879	26232879	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:26232879T>C	ENST00000354667.4	-	10	1160	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y319C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	331	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACCTCCACCATATGGTCCCCC	0.358000			T	ETV1	prostate								29	59					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900460	13900460	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:13900460T>A	ENST00000265104.4	-	15	2218	c.2114A>T	c.(2113-2115)gAa>gTa	p.E705V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	705	Stem (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)					TACAAACAATTCCCCTGTGCC	0.428000									Kartagener syndrome				24	55					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081185	7081185	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:7081185C>A	ENST00000299481.4	+	9	3040	c.2694C>A	c.(2692-2694)caC>caA	p.H898Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	898					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTCTTCTACACAACAAGAGCC	0.443000													42	86					4.00102e-26	4.61906e-26	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10600446	10600446	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:10600446C>T	ENST00000171111.5	-	4	1956	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATAAAGGAGACGATTGAGGAC	0.562000													15	20					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575309	56575309	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:56575309G>C	ENST00000394023.3	-	10	1018	c.913C>G	c.(913-915)Cct>Gct	p.P305A	SMARCC2_ENST00000550164.1_Missense_Mutation_p.P305A|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P305A|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P305A|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	305					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTGGTGAAGGAGAGGGGGAG	0.507000													27	53					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89521862	89521862	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:89521862G>A	ENST00000370473.4	-	8	1424	c.1205C>T	c.(1204-1206)gCa>gTa	p.A402V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	402					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ATCTGATGATGCTTCCTGATT	0.413000													48	98					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28992919	28992919	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:28992919G>A	ENST00000311008.11	+	6	1169	c.792G>A	c.(790-792)ctG>ctA	p.L264L	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Silent_p.L242L|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Silent_p.L191L|SPNS1_ENST00000334536.8_Silent_p.L264L|SPNS1_ENST00000565975.1_Silent_p.L309L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	264					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGCAGATCTGAGGGCTCTGG	0.592000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	54					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762687	24762687	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:24762687G>A	ENST00000376451.2	+	2	791	c.531G>A	c.(529-531)ccG>ccA	p.P177P	KIAA1217_ENST00000430453.2_Silent_p.P380P|KIAA1217_ENST00000458595.1_Silent_p.P459P|KIAA1217_ENST00000396446.1_Silent_p.P177P|KIAA1217_ENST00000307544.6_Silent_p.P177P|KIAA1217_ENST00000376454.3_Silent_p.P459P|KIAA1217_ENST00000376452.3_Silent_p.P459P|KIAA1217_ENST00000396445.1_Silent_p.P177P|KIAA1217_ENST00000376462.1_Silent_p.P379P			Q5T5P2	SKT_HUMAN	KIAA1217	459					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAAATATCCGGATAGCCATT	0.502000													5	51					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790752	19790752	+	Silent	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:19790752C>G	ENST00000592502.1	+	4	1064	c.954C>G	c.(952-954)gtC>gtG	p.V318V	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.V198V			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GTGCCAAAGTCTTTAGATGTC	0.398000													23	21					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889435	34889435	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr21:34889435G>A	ENST00000381831.3	-	16	2231	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	GART_ENST00000543717.1_Silent_p.L208L|GART_ENST00000381815.4_Silent_p.L656L|GART_ENST00000381839.3_Silent_p.L656L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	656	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTAGGCGTGAGAAGTAAGT	0.423000													70	34					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12856261	12856261	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:12856261G>A	ENST00000378847.3	+	7	1046	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E237K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	237	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCTCAAGGCGGAATATGAGTT	0.522000													27	26					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124103785	124103785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:124103785C>T	ENST00000360013.3	+	11	1985	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.R620*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R620*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	620					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGGCAGCTCGACACCTGGA	0.567000													23	39					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896334	151896334	+	RNA	SNP	G	G	A	rs2515828	by1000genomes	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:151896334G>A	ENST00000361201.4	-	0	396					NR_073432.1													p.P26P(2)		endometrium(2)|kidney(2)|lung(1)	5						GTTCCCTTCCGGGTTGTCTTG	0.527000													3	47					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	26998435	26998435	+	Silent	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:26998435G>T	ENST00000344420.5	+	4	488	c.426G>T	c.(424-426)ctG>ctT	p.L142L	SLC35F6_ENST00000416475.2_Silent_p.L59L|CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000482746.1_3'UTR	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		GGCTGGTGCTGAGCCAGTGGC	0.627000													3	11					1	1	1	1	0
CARF	79800	broad.mit.edu	37	2	203817391	203817391	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:203817391A>G	ENST00000320443.8	+	5	1459	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CARF_ENST00000444724.1_Missense_Mutation_p.N139S|CARF_ENST00000545253.1_Missense_Mutation_p.N51S|CARF_ENST00000438828.2_Missense_Mutation_p.N139S|CARF_ENST00000434998.1_Missense_Mutation_p.N37S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.N63S|CARF_ENST00000456821.2_Missense_Mutation_p.N127S|CARF_ENST00000545262.1_Missense_Mutation_p.N63S|CARF_ENST00000414439.1_Missense_Mutation_p.N37S|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000402905.2_Missense_Mutation_p.N139S					calcium responsive transcription factor																		GTGGATGTGAATAGTCCTCGG	0.418000													30	38					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765031	40765031	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:40765031G>A	ENST00000397128.2	-	7	1139	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	PRKAA1_ENST00000354209.3_Silent_p.F392F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	377					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAGCAACCAAGAATGGTACTC	0.428000													8	34					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967121	106967121	+	RNA	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:106967121C>T	ENST00000390622.2	-	0	582																											TGCTCGTGGACGTGTCCCTGG	0.542000													181	48					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198713186	198713186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:198713186C>T	ENST00000367376.2	+	26	2866	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q738*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q740*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q851*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q901*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	899	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						ATTGTAGGCCCAGTACATCTT	0.328000													6	25					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20107757	20107757	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:20107757G>A	ENST00000381569.1	-	4	1624	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R423W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R423W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	423					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGCTTGCCCCGCGTGTCCTTC	0.647000													67	113					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39797452	39797452	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:39797452G>C	ENST00000373272.2	+	21	2830	c.2425G>C	c.(2425-2427)Gag>Cag	p.E809Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E809Q|PLCG1_ENST00000373271.1_Missense_Mutation_p.E809Q	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	809	SH3.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGGGAGGACGAGCTGACCTT	0.577000													6	17					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955807	37955807	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:37955807G>A	ENST00000436072.2	-	1	710	c.333C>T	c.(331-333)ctC>ctT	p.L111L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	111	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATCTTCATGAGGGGCTCGC	0.627000													19	33					0	0	1	0	0
AKAP10	11216	broad.mit.edu	37	17	19843030	19843030	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:19843030C>T	ENST00000225737.6	-	8	1475	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D440N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	440	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ACTCACTTGTCATATAAAATC	0.373000													15	39					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72209806	72209806	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:72209806T>C	ENST00000269346.4	+	1	154	c.80T>C	c.(79-81)cTg>cCg	p.L27P		NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	27						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCCTGCGCCTGCAGCCCGTG	0.701000													16	16					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50733619	50733619	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:50733619T>G	ENST00000433963.1	+	4	678	c.178T>G	c.(178-180)Tat>Gat	p.Y60D	USP8_ENST00000558892.1_3'UTR|USP8_ENST00000307179.4_Missense_Mutation_p.Y60D|USP8_ENST00000396444.3_Missense_Mutation_p.Y60D|USP8_ENST00000425032.3_Intron	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	60	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAAAGGGCCTATGTACTATA	0.323000													12	23					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11913622	11913622	+	Silent	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:11913622C>G	ENST00000339865.5	+	3	1024	c.261C>G	c.(259-261)tcC>tcG	p.S87S	USP47_ENST00000527733.1_Silent_p.S155S|USP47_ENST00000399455.2_Silent_p.S175S|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	175					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAAGCTACTCCTACTCATCTA	0.403000													29	71					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83643661	83643661	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:83643661T>A	ENST00000265362.3	-	7	988	c.674A>T	c.(673-675)aAg>aTg	p.K225M	SEMA3A_ENST00000436949.1_Missense_Mutation_p.K225M	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	225	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACTAATGAACTTTGGATCTGA	0.333000													11	11					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111681154	111681154	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:111681154C>G	ENST00000431670.2	+	13	3483	c.3072C>G	c.(3070-3072)atC>atG	p.I1024M	PHLDB2_ENST00000412622.1_Missense_Mutation_p.I981M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.I1008M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.I1024M|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.I515M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.I981M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1024						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAGACAACATCTCTAGGTAAG	0.438000													13	39					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10249209	10249209	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:10249209G>A	ENST00000340748.4	-	34	4208	c.3973C>T	c.(3973-3975)Cct>Tct	p.P1325S	DNMT1_ENST00000540357.1_Missense_Mutation_p.P1325S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1341S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1325	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGAACAGAGGGAGCTTCTCT	0.637000													10	39					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847327	29847327	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr20:29847327G>C	ENST00000400552.1	+	2	159	c.159G>C	c.(157-159)gaG>gaC	p.E53D		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	53					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAGAAATTGAGAGGAAGAAAG	0.353000													19	26					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412797	67412797	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:67412797C>T	ENST00000255082.3	-	5	657	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ACY3_ENST00000529256.1_Missense_Mutation_p.E42K	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	163					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TTGTAGCTCTCCTCCCCAGAC	0.657000													6	19					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519931	64519931	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr14:64519931G>C	ENST00000358025.3	+	48	9530	c.9300G>C	c.(9298-9300)gaG>gaC	p.E3100D	SYNE2_ENST00000344113.4_Missense_Mutation_p.E3100D|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3133D	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3100					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATGTGATGAGATAATAAAGA	0.333000													19	30					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74273270	74273270	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:74273270T>C	ENST00000262765.5	-	16	4920	c.4741A>G	c.(4741-4743)Act>Gct	p.T1581A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1581							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ATCTCTTCAGTAGGATACAGG	0.637000													27	50					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412840	11412840	+	Splice_Site	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:11412840G>C	ENST00000259089.4	+	8	1211		c.e8-1		BLK_ENST00000529894.1_Splice_Site	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase						intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCCTAATGCAGAGAAGGGGGA	0.627000													42	69					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	53					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	208211	208211	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chrX:208211G>A	ENST00000381657.2	+	5	953	c.439G>A	c.(439-441)Gag>Aag	p.E147K	PLCXD1_ENST00000399012.1_Missense_Mutation_p.E147K|PLCXD1_ENST00000381663.3_Missense_Mutation_p.E147K	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	147	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	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)				GCATCCACGCGAGGTGGTCAT	0.617000													16	46					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802692	54802692	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54802692G>A	ENST00000391745.1	-	9	1116	c.800C>T	c.(799-801)gCc>gTc	p.A267V	LILRA3_ENST00000251390.3_Missense_Mutation_p.A250V|LILRA3_ENST00000391744.3_Missense_Mutation_p.A186V					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCGTAGCCGGCATCAGAGCC	0.612000													4	51					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94377080	94377080	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:94377080C>G	ENST00000282020.4	+	11	2071	c.1813C>G	c.(1813-1815)Ctc>Gtc	p.L605V	GRID2_ENST00000510992.1_Missense_Mutation_p.L510V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	605					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCTACTACTCTCTACAACTC	0.403000													29	47					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636404	18636404	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:18636404G>C	ENST00000336349.5	-	3	1652	c.1417C>G	c.(1417-1419)Cat>Gat	p.H473D		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	473	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CGAAGTTCATGTGGACTGCTC	0.622000													12	49					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477105	21477105	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:21477105C>T	ENST00000356929.3	-	4	860	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTAGGGTTTCTCTCCAGTAT	0.343000													5	26					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308854	205308854	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:205308854G>T	ENST00000367156.3	-	6	1275	c.459C>A	c.(457-459)gaC>gaA	p.D153E	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.D19E|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D153E|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.D40E|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D153E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	153										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCCACATGTCCTTCAGCA	0.552000													9	28					3.09899e-07	3.25967e-07	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43413617	43413617	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:43413617A>G	ENST00000244533.3	+	13	3586	c.3227A>G	c.(3226-3228)tAt>tGt	p.Y1076C	ABCC10_ENST00000372530.4_Missense_Mutation_p.Y1104C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1104	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTCCACTGTATAGCCATCTG	0.637000													21	43					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642774	50642774	+	Silent	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:50642774G>T	ENST00000371824.1	+	3	521	c.264G>T	c.(262-264)ggG>ggT	p.G88G	ELAVL4_ENST00000371819.1_Silent_p.G93G|ELAVL4_ENST00000371827.1_Silent_p.G88G|ELAVL4_ENST00000371823.4_Silent_p.G88G|ELAVL4_ENST00000357083.4_Silent_p.G105G|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371821.1_Silent_p.G93G|ELAVL4_ENST00000448907.2_Silent_p.G91G			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	88	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGAGTTTAGGGTATGGATTTG	0.403000													16	29					6.31663e-08	6.69374e-08	1	1	0
GLG1	2734	broad.mit.edu	37	16	74499652	74499652	+	Silent	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:74499652T>C	ENST00000422840.2	-	19	2588	c.2589A>G	c.(2587-2589)gtA>gtG	p.V863V	GLG1_ENST00000447066.2_Silent_p.V852V|GLG1_ENST00000205061.5_Silent_p.V863V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	863						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCAGCTTAAATACTTTTTGGT	0.458000													65	194					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138431123	138431123	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:138431123A>T	ENST00000477593.1	-	9	1399	c.1326T>A	c.(1324-1326)aaT>aaA	p.N442K	PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.N442K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	442	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAACCATCGTATTTACCCACG	0.343000													7	21					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44684387	44684387	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:44684387G>A	ENST00000281543.5	+	5	738	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	182					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CTTCTTTCTTGCCTTCGAAGC	0.318000													23	69					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38271893	38271893	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:38271893C>A	ENST00000311806.3	+	10	1295	c.923C>A	c.(922-924)gCa>gAa	p.A308E	OXSR1_ENST00000446845.1_Missense_Mutation_p.A308E	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	308					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTGCAGAGAGCACCAACCATT	0.289000													25	26					5.61819e-17	6.33161e-17	1	1	0
NAF1	92345	broad.mit.edu	37	4	164050333	164050333	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:164050333T>C	ENST00000274054.2	-	8	1394	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	401					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAGATACCATATGTTCTGAG	0.433000													21	24					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170016	118170016	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:118170016C>G	ENST00000427715.2	+	7	792	c.358C>G	c.(358-360)Cct>Gct	p.P120A	SLC30A8_ENST00000519688.1_Missense_Mutation_p.P120A|SLC30A8_ENST00000456015.2_Missense_Mutation_p.P169A|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P120A	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	169					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGCTGTATCCTGATTACCA	0.552000													81	116					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67045471	67045471	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:67045471G>C	ENST00000340001.4	-	3	468	c.257C>G	c.(256-258)aCt>aGt	p.T86S	ABCA9_ENST00000370732.2_Missense_Mutation_p.T86S|ABCA9_ENST00000495634.1_Missense_Mutation_p.T86S|ABCA9_ENST00000453985.2_Missense_Mutation_p.T86S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	86					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTCTTGGGTAGTTTTGGATTC	0.368000													31	50					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202887508	202887508	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:202887508G>T	ENST00000367261.3	-	4	576	c.358C>A	c.(358-360)Caa>Aaa	p.Q120K	KLHL12_ENST00000435533.3_Missense_Mutation_p.Q158K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	120					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCAGGCTTGTTTCACACCT	0.428000													26	34					3.08376e-08	3.31738e-08	1	1	0
KCNQ1	3784	broad.mit.edu	37	11	2799262	2799262	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:2799262G>C	ENST00000155840.5	+	15	1897	c.1789G>C	c.(1789-1791)Gac>Cac	p.D597H	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Missense_Mutation_p.D470H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	597	Subunits assembly domain.				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCGAGTAGAAGACAAGGTAGG	0.612000													21	39					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149880767	149880767	+	Silent	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:149880767A>T	ENST00000369146.3	-	8	1846	c.1356T>A	c.(1354-1356)ggT>ggA	p.G452G	SV2A_ENST00000369145.1_Silent_p.G452G	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	452					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGAACCACACACCCATCATCA	0.532000													29	41					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765109	40765109	+	Silent	SNP	G	G	A	rs116338283	by1000genomes	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:40765109G>A	ENST00000397128.2	-	7	1061	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PRKAA1_ENST00000354209.3_Silent_p.F366F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	351					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.F366L(1)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TCGCCAAATAGAAATCTTTGG	0.433000													18	57					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702152	60702152	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:60702152C>T	ENST00000005286.4	+	9	1908	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	TMEM132A_ENST00000453848.2_Silent_p.H584H	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	584						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCGCCACACGCCCGCGTGC	0.721000													10	9					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641683	78641683	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr4:78641683G>A	ENST00000504123.1	-	12	1700	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H524Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	524					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GAAGGGATGTGAGGGTGTGGA	0.488000													30	131					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699102	52699102	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:52699102G>C	ENST00000293525.5	+	5	866	c.814G>C	c.(814-816)Gac>Cac	p.D272H	KRT86_ENST00000423955.2_Missense_Mutation_p.D272H|KRT86_ENST00000544024.1_Missense_Mutation_p.D272H	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	272	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGAACATGGACTGCATCAT	0.592000													45	72					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2101568	2101568	+	Splice_Site	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr9:2101568A>G	ENST00000382203.1	+	22	3287		c.e22-1		SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site|SMARCA2_ENST00000382194.1_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTCTTTTAAAGGAATCCTTT	0.274000													2	17					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63005526	63005526	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:63005526T>A	ENST00000251157.5	-	26	3116	c.3083A>T	c.(3082-3084)aAa>aTa	p.K1028I	DOCK7_ENST00000340370.5_Missense_Mutation_p.K997I	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1028					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGCCTCAAGTTTATCATTAAA	0.328000													10	17					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59277366	59277366	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:59277366T>A	ENST00000320743.3	-	11	1538	c.1252A>T	c.(1252-1254)Agt>Tgt	p.S418C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S358C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	418						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCGTTGTCACTCAGGTCTCTG	0.413000			T	ROS1	NSCLC								19	38					0	0	1	0	0
C10orf91	170393	broad.mit.edu	37	10	134261557	134261557	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr10:134261557G>A	ENST00000392630.3	+	3	491	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	C10orf91_ENST00000321248.2_Missense_Mutation_p.E144K	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	144			E -> G (in dbSNP:rs11146376).							endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TGCGGCCTTCGAAGCCTGAAG	0.662000													22	59					0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11470232	11470232	+	Silent	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:11470232C>T	ENST00000251473.5	+	4	467	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CATTGTGATCCTGCTTGCTTA	0.612000													14	20					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814025	137814025	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:137814025G>A	ENST00000409968.1	+	3	353	c.175G>A	c.(175-177)Gga>Aga	p.G59R	THSD7B_ENST00000272643.3_Missense_Mutation_p.G59R|THSD7B_ENST00000413152.2_Missense_Mutation_p.G28R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493000													16	30					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19501415	19501415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:19501415C>A	ENST00000538714.1	+	21	2661	c.2657C>A	c.(2656-2658)tCa>tAa	p.S886*	PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.S828*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.S586*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.S810*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.S891*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.S817*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.S886*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.S994*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	828							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAAGAAAAATCAGAACCTGTT	0.353000													26	36					1.33986e-20	1.53436e-20	1	1	0
MIA3	375056	broad.mit.edu	37	1	222803326	222803326	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:222803326G>C	ENST00000344922.5	+	4	2789	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D922H|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	922					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAAGAGGGAGGACTTACTTAT	0.468000													6	49					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56878497	56878497	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:56878497G>A	ENST00000569842.1	+	23	2650	c.2554G>A	c.(2554-2556)Gca>Aca	p.A852T	NUP93_ENST00000308159.5_Silent_p.V812V|NUP93_ENST00000542526.1_Silent_p.V689V|NUP93_ENST00000564887.1_Silent_p.V689V			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGAGGCTGGTGCAGATGGAGG	0.547000													22	42					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30780713	30780713	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr16:30780713G>A	ENST00000324685.6	+	16	2889	c.2454G>A	c.(2452-2454)aaG>aaA	p.K818K	RNF40_ENST00000563683.1_Silent_p.K778K|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Silent_p.K718K|RNF40_ENST00000402121.3_Silent_p.K510K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	818					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TTGGCCTCAAGTCCCAGGTAT	0.597000													23	42					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116444184	116444184	+	Silent	SNP	A	A	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:116444184A>G	ENST00000281928.3	-	12	2477	c.2271T>C	c.(2269-2271)acT>acC	p.T757T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	757					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACCTGGTGTAGTGACATCCT	0.418000													23	46					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401226	10401226	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:10401226A>T	ENST00000226207.5	-	31	4284	c.4190T>A	c.(4189-4191)cTg>cAg	p.L1397Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1397						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACGCTGAGCCAGCTTCTTCCT	0.453000													5	30					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81331433	81331433	+	Silent	SNP	G	G	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:81331433G>C	ENST00000552864.1	-	1	271	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	23					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGTCCAGGGTGAGCGGCTGGA	0.637000													7	9					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214585062	214585062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:214585062G>A	ENST00000366956.5	-	5	669	c.475C>T	c.(475-477)Caa>Taa	p.Q159*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q159*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	159	FERM.		Q -> E (in a breast cancer sample; somatic mutation).		lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.Q159E(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGGAAATCTTGAGAATCAAAC	0.303000													14	25					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	1028566	1028566	+	Silent	SNP	G	G	A	rs143549153	byFrequency	TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:1028566G>A	ENST00000544583.2	-	2	659	c.60C>T	c.(58-60)ggC>ggT	p.G20G	ABR_ENST00000302538.5_Silent_p.G66G|ABR_ENST00000574437.1_Silent_p.G20G	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	66					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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CATCCCCCCCGCCCTGGCTGC	0.672000													44	49					0	0	1	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494356	25494356	+	RNA	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr15:25494356G>A	ENST00000365503.1	+	0	12					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						GGTCAATGATGAGAACCTTAT	0.522000													42	288					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293458	62293458	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr11:62293458T>C	ENST00000378024.4	-	5	8705	c.8431A>G	c.(8431-8433)Atc>Gtc	p.I2811V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2811					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCCTTCGATATTCACATCG	0.448000													22	153					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802685	54802685	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:54802685G>A	ENST00000391745.1	-	9	1123	c.807C>T	c.(805-807)taC>taT	p.Y269Y	LILRA3_ENST00000251390.3_Silent_p.Y252Y|LILRA3_ENST00000391744.3_Silent_p.Y188Y					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGGCAT	0.627000													5	49					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644812	53644812	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:53644812G>A	ENST00000452676.2	-	5	1698	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	ZNF347_ENST00000334197.7_Silent_p.H423H|ZNF347_ENST00000601469.2_Silent_p.H424H|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCTCCAGTGTGAATTCTCC	0.428000													46	57					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49379062	49379062	+	Silent	SNP	C	C	G			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:49379062C>G	ENST00000200453.5	+	3	2126	c.1857C>G	c.(1855-1857)ctC>ctG	p.L619L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	619					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGCACGCCTCAGGAACCCAC	0.687000													107	132					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094475	76094475	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:76094475C>A	ENST00000335749.4	+	18	5035	c.4466C>A	c.(4465-4467)aCg>aAg	p.T1489K	TNRC6C_ENST00000541771.1_Missense_Mutation_p.T1453K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T1453K|TNRC6C_ENST00000588061.1_Missense_Mutation_p.T1453K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T1489K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T1489K	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1453	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCCCACACGCAAGCCTCT	0.527000													11	21					4.68919e-08	5.0065e-08	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183066183	183066183	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr2:183066183C>T	ENST00000435564.1	-	10	1356	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	PDE1A_ENST00000409365.1_Missense_Mutation_p.E370K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E282K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E386K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E386K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E386K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E370K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E386K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E352K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	386	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAAACTCCTCCATTAGGGCC	0.483000													35	40					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174444	11174444	+	Silent	SNP	G	G	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:11174444G>A	ENST00000390673.2	-	1	775	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	243					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTATACACAGAAAGTAAATG	0.428000													35	95					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156464353	156464353	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:156464353C>A	ENST00000339252.3	-	6	1389	c.857G>T	c.(856-858)aGt>aTt	p.S286I	HAVCR1_ENST00000522693.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S286I|HAVCR1_ENST00000517644.1_5'UTR	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	281					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTCAGTAGACTATGTTCTAG	0.398000													33	36					8.88839e-20	1.00972e-19	1	1	0
ELF3	1999	broad.mit.edu	37	1	201981564	201981564	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr1:201981564G>T	ENST00000359651.3	+	3	3670	c.478_splice	c.e3+1	p.D160_splice	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Splice_Site_p.D160_splice|ELF3_ENST00000367284.5_Splice_Site_p.D160_splice|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	160				DQ -> GE (in Ref. 7; CAD29859).	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGGCCCTTTGGTGAGAACCC	0.577000													3	47					0.115264	0.116911	1	1	0
GFRAL	389400	broad.mit.edu	37	6	55223758	55223758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr6:55223758C>A	ENST00000340465.2	+	6	860	c.774C>A	c.(772-774)tgC>tgA	p.C258*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	258						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGAGAATTGCATTAGCACCT	0.413000													28	51					8.24728e-16	9.22137e-16	1	1	0
STARD6	147323	broad.mit.edu	37	18	51851189	51851189	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr18:51851189A>T	ENST00000581310.1	-	9	909	c.536T>A	c.(535-537)tTg>tAg	p.L179*	STARD6_ENST00000580990.2_Nonsense_Mutation_p.L55*|STARD6_ENST00000307844.3_Nonsense_Mutation_p.L179*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	179	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATGGGGACAATTTTCCTCT	0.348000													19	32					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145913053	145913053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr3:145913053delC	ENST00000354952.2	-	8	1043	c.803delG	c.(802-804)gcfs	p.G268fs	PLSCR4_ENST00000433593.2_Frame_Shift_Del_p.G163fs|PLSCR4_ENST00000383083.2_Frame_Shift_Del_p.G178fs|PLSCR4_ENST00000493382.1_Frame_Shift_Del_p.G268fs|PLSCR4_ENST00000446574.2_Frame_Shift_Del_p.G268fs	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	268					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTTGGATATGCCATCAAGGGA	0.398													36	38	---	---	---	---					
CDO1	1036	broad.mit.edu	37	5	115148957	115148958	+	Splice_Site	INS	-	-	A			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr5:115148957_115148958insA	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGGGTATACCTAAAAAAAAACA	0.332													8	21	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							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)			CCCGGCCCCCATGCCCCTGCAG	0.703													3	5	---	---	---	---					
LGI3	203190	broad.mit.edu	37	8	22013886	22013889	+	Frame_Shift_Del	DEL	GCCT	GCCT	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr8:22013886_22013889delGCCT	ENST00000306317.2	-	1	456_459	c.167_170delAGGC	c.(166-171)agfs	p.KA56fs	LGI3_ENST00000424267.2_Frame_Shift_Del_p.KA56fs	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	56	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCTGGGCACCGCCTTTGAGTCCAC	0.672													8	23	---	---	---	---					
IPO8	10526	broad.mit.edu	37	12	30787082	30787082	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr12:30787082delA	ENST00000256079.4	-	23	3172	c.2834delT	c.(2833-2835)tcfs	p.F945fs	IPO8_ENST00000544829.1_Frame_Shift_Del_p.F740fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	945					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGAGTACTGAACCCCTCAAG	0.413													28	38	---	---	---	---					
SLC52A1	55065	broad.mit.edu	37	17	4936879	4936880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:4936879_4936880insT	ENST00000512825.2	-	3	2315_2316	c.904_905insA	c.(904-906)cttfs	p.L302fs	SLC52A1_ENST00000424747.1_Frame_Shift_Ins_p.L302fs|SLC52A1_ENST00000254853.5_Frame_Shift_Ins_p.L302fs			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	302						integral to plasma membrane	receptor activity|riboflavin transporter activity										ACAGGAAAAGCTCTGCACAGAA	0.644													19	27	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578398	7578398	+	Frame_Shift_Del	DEL	G	G	-	rs68130327		TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr17:7578398delG	ENST00000420246.2	-	5	664	c.532delC	c.(532-534)acfs	p.H179fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.H179fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.H179fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H179fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178fs*3(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCTCATGGTGGGGGCAGCGC	0.642		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)			23	22	---	---	---	---					
SIPA1L3	23094	broad.mit.edu	37	19	38590721	38590721	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7588-01A-11D-2078-08	TCGA-DQ-7588-10B-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aad9b01-6a99-4f21-955f-7938af25a188	2805f3b2-5a20-4124-a730-3bb6ea20ffc0	g.chr19:38590721delC	ENST00000222345.6	+	5	2294	c.1785delC	c.(1783-1785)atfs	p.I595fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	595					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTCAACATCCACTGCCTGC	0.642													36	35	---	---	---	---