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
CUBN	8029	broad.mit.edu	37	10	16882377	16882377	+	Silent	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:16882377G>C	ENST00000377833.4	-	62	10049	c.9984C>G	c.(9982-9984)acC>acG	p.T3328T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3328	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTCTTGCGAGGTCAGCTGTA	0.463000													14	20					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33592874	33592874	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:33592874A>G	ENST00000399362.4	-	30	3397	c.3044T>C	c.(3043-3045)aTc>aCc	p.I1015T	CLASP2_ENST00000539981.1_Missense_Mutation_p.I785T|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1016T|CLASP2_ENST00000461133.3_Missense_Mutation_p.I775T|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1007T|CLASP2_ENST00000307312.7_Missense_Mutation_p.I497T|CLASP2_ENST00000480013.1_Missense_Mutation_p.I795T	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1017										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTATTTAAGGATAGCAACCTT	0.408000													4	30					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40262802	40262802	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:40262802G>A	ENST00000251642.3	-	5	722	c.500C>T	c.(499-501)aCa>aTa	p.T167I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	167	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGAGGCTGTGAGACCCAG	0.627000													4	78					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207569605	207569605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:207569605G>A	ENST00000452335.2	-	5	561	c.445C>T	c.(445-447)Cga>Tga	p.R149*	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	149						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AAAACCCTTCGAGTCATGCGT	0.358000													17	11					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220936325	220936325	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:220936325A>G	ENST00000366913.3	+	4	881	c.683A>G	c.(682-684)gAg>gGg	p.E228G	MARC2_ENST00000359316.2_Missense_Mutation_p.E228G	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	228	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ACCAGGATGGAGAAGAAAATG	0.493000													29	53					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933333	150933333	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:150933333G>A	ENST00000271640.5	+	16	2985	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.R932Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	932	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCAGACCCGGGGCCAGAAA	0.532000													41	65					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64404543	64404543	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:64404543C>G	ENST00000262043.3	+	6	2909	c.2569C>G	c.(2569-2571)Cgt>Ggt	p.R857G	PHF3_ENST00000393387.1_Missense_Mutation_p.R857G			Q92576	PHF3_HUMAN	PHD finger protein 3	857					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCTCCTCTTCGTAAGATGGG	0.383000													4	153					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65242163	65242163	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:65242163A>G	ENST00000374737.4	-	8	1250	c.1142T>C	c.(1141-1143)cTg>cCg	p.L381P	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.L287P	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	381					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGTGTCCAGCAGGCGGGC	0.507000													14	59					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179332847	179332847	+	Splice_Site	SNP	G	G	A	rs11539675		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:179332847G>A	ENST00000259037.3	+	2	327	c.213_splice	c.e2+1	p.L71_splice	NDUFB5_ENST00000472629.1_Intron|NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000473500.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	71					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TGAAGTTATTGGTAAGTTTAA	0.318000													15	39					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161723	90161723	+	RNA	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:90161723T>C	ENST00000567960.1	+	0	459				TUBB8P7_ENST00000564451.1_RNA																							TTCTCATTAGTAAGATCCGGG	0.572000													4	14					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811527	38811527	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:38811527C>T	ENST00000310803.5	-	4	549	c.372G>A	c.(370-372)aaG>aaA	p.K124K	RASGRP1_ENST00000450598.2_Silent_p.K124K|RASGRP1_ENST00000539159.1_Silent_p.K76K|RASGRP1_ENST00000558164.1_Silent_p.K124K|RASGRP1_ENST00000559830.1_Silent_p.K124K|RASGRP1_ENST00000561180.1_Silent_p.K175K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	124	N-terminal Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AATAACAGATCTTCAGGCAAA	0.413000													27	32					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624411	32624411	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr21:32624411G>C	ENST00000286827.3	-	6	1529	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	TIAM1_ENST00000541036.1_Missense_Mutation_p.T353S|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	353					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGGAGTTGGTGGCATTAGA	0.622000													96	221					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235409	127235409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:127235409C>T	ENST00000265825.5	+	2	412	c.193C>T	c.(193-195)Cga>Tga	p.R65*	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	65						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGTGGTGCGACTAAAGAG	0.562000													27	75					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054351	76054351	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:76054351C>A	ENST00000394857.3	+	1	128	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	ZP3_ENST00000336517.4_Intron	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	24					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTACCCCCAACCCCTCTGGCT	0.602000													4	14					0.00024832	0.000256417	1	1	0
DST	667	broad.mit.edu	37	6	56357765	56357765	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:56357765C>A	ENST00000370754.5	-	84	20423	c.20424G>T	c.(20422-20424)ttG>ttT	p.L6808F	DST_ENST00000370788.2_Missense_Mutation_p.L4433F|DST_ENST00000446842.2_Missense_Mutation_p.L6304F|DST_ENST00000361203.3_Missense_Mutation_p.L6519F|DST_ENST00000244364.6_Missense_Mutation_p.L4216F|DST_ENST00000370769.4_Missense_Mutation_p.L6630F|DST_ENST00000421834.2_Missense_Mutation_p.L4542F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6628					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.L4216F(1)|p.L6630F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGACTGTGTCCAAGATGAGAC	0.398000													5	12					5.9392e-07	6.3396e-07	1	1	0
UQCRC1	7384	broad.mit.edu	37	3	48637920	48637920	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:48637920A>T	ENST00000203407.5	-	10	1624	c.1208T>A	c.(1207-1209)cTa>cAa	p.L403Q		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	403					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CTCACCATCTAGATGAGATAC	0.567000													20	1					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103400064	103400064	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:103400064C>T	ENST00000361246.2	-	37	5409	c.5121G>A	c.(5119-5121)ccG>ccA	p.P1707P	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1707					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTCACAGGCCGGCTGCTCCA	0.667000													3	4					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004951	59004951	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:59004951C>T	ENST00000371226.3	-	2	129	c.16G>A	c.(16-18)Gga>Aga	p.G6R	OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.G6R	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	6					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GACTGCAATCCACAGATGAAG	0.363000													12	25					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													3	22					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89620289	89620289	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:89620289C>T	ENST00000268704.2	+	15	2039	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	675					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGGCCCATCTCCTTCCCTGAG	0.662000													42	48					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1232004	1232004	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:1232004G>A	ENST00000510568.1	-	2	720	c.129C>T	c.(127-129)tgC>tgT	p.C43C	CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Silent_p.C54C|CTBP1_ENST00000382952.3_Silent_p.C43C			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	54	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ACTGCGCGTCGCAGAAGGCCA	0.672000													4	125					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594664	179594664	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:179594664G>C	ENST00000589042.1	-	63	18540	c.18316C>G	c.(18316-18318)Caa>Gaa	p.Q6106E	TTN_ENST00000591111.1_Missense_Mutation_p.Q5789E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q4862E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5789	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATGAATTGAGGAGGTTCT	0.438000													9	18					0	0	1	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250542	26250542	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:26250542C>G	ENST00000446824.2	-	1	293	c.292G>C	c.(292-294)Gag>Cag	p.E98Q		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E98K(1)		lung(6)|urinary_tract(1)	7						AGGTAAGCCTCGCAGGCCTCC	0.602000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	18					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11871427	11871427	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:11871427G>A	ENST00000423059.3	-	1	397	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	49						integral to membrane		p.A49V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCGCCCTGCGCCGCAGCCCT	0.706000										HNSCC(18;0.044)			10	9					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44952563	44952563	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:44952563C>G	ENST00000393461.2	+	3	484	c.431C>G	c.(430-432)aCc>aGc	p.T144S	WNT9B_ENST00000290015.2_Missense_Mutation_p.T144S			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	144					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGCGCTGCACCTGTGATGAC	0.647000													118	9					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18775890	18775890	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:18775890T>C	ENST00000380548.4	+	18	2886	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	849	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACCTGTGCAAGTAAGT	0.557000													11	12					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509657	71509657	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:71509657T>C	ENST00000288177.5	-	6	1048	c.793A>G	c.(793-795)Aga>Gga	p.R265G	ZNF19_ENST00000565100.2_Missense_Mutation_p.R195G|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.R223G|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R265G	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GTGTGGATTCTCTGATGTATA	0.453000													31	43					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933030	43933030	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:43933030C>T	ENST00000537548.1	-	4	725	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.A161T|MATN4_ENST00000360607.5_Missense_Mutation_p.A161T|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.A161T|MATN4_ENST00000372756.1_Missense_Mutation_p.A161T|MATN4_ENST00000372754.1_Missense_Mutation_p.A161T			O95460	MATN4_HUMAN	matrilin 4	161	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGGGCGCGCGCCTGTGCCGCC	0.741000													21	203					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109765634	109765634	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:109765634G>A	ENST00000277225.5	+	11	7405	c.7116G>A	c.(7114-7116)aaG>aaA	p.K2372K	ZNF462_ENST00000441147.2_Silent_p.K1278K|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.K2432K|ZNF462_ENST00000542028.1_Silent_p.K329K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2372					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGATGAAGGAGAAAATGG	0.473000													5	101					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	57					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935256	30935256	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:30935256G>C	ENST00000355537.3	+	2	934	c.787G>C	c.(787-789)Gtg>Ctg	p.V263L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTGCCAGCGTGCAGGAGGA	0.711000													6	124					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293880	29293880	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:29293880G>A	ENST00000331664.5	-	1	3247	c.3248C>T	c.(3247-3249)cCt>cTt	p.P1083L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1083	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AATCGAGAAAGGGGGGCTTGC	0.602000													44	96					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617000													4	96					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221848	55221848	+	RNA	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55221848A>G	ENST00000413439.1	+	0	1415																											TCAGCTCAGAACGAGGTGGGG	0.637000													3	51					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161714	90161714	+	RNA	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:90161714T>C	ENST00000567960.1	+	0	450				TUBB8P7_ENST00000564451.1_RNA														p.L150L(1)									TGGGTACCCTTCTCATTAGTA	0.562000													4	19					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624069	175624069	+	Missense_Mutation	SNP	C	C	A	rs147488907	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:175624069C>A	ENST00000348749.5	-	3	301	c.224G>T	c.(223-225)cGt>cTt	p.R75L	CHRNA1_ENST00000409219.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R75L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R75L|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	75					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CTGTTTCAGACGCACATTGGT	0.443000													7	71					2.7689e-08	3.02351e-08	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55331226	55331226	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55331226G>C	ENST00000391728.4	+	4	447	c.414G>C	c.(412-414)gaG>gaC	p.E138D	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E138D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E43D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E138D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E138D	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGGAGAGAGAGTCATCC	0.488000													29	83					0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5338195	5338195	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:5338195C>T	ENST00000225698.4	-	3	556	c.475G>A	c.(475-477)Gag>Aag	p.E159K	C1QBP_ENST00000574444.1_Missense_Mutation_p.E55K	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	159					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						TAGCTTACCTCCTGTTCTTCA	0.438000													4	43					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100634935	100634935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr13:100634935C>A	ENST00000376335.3	+	1	910	c.617C>A	c.(616-618)tCg>tAg	p.S206*		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	206	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACCCCTACTCGGCGGCGCAA	0.662000													11	101					7.03913e-09	7.77578e-09	1	1	0
FBXW7	0	broad.mit.edu	37	4	153249510	153249510	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:153249510C>A	ENST00000281708.4	-	9	2497	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V	FBXW7_ENST00000393956.3_Missense_Mutation_p.G247V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305V|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	423					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								47	61					7.88023e-25	8.80732e-25	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952119	178952119	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:178952119C>G	ENST00000263967.3	+	21	3331	c.3174C>G	c.(3172-3174)atC>atG	p.I1058M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1058	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGGATTGGATCTTCCACACAA	0.398000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	47					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644265	37644265	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:37644265G>C	ENST00000356958.4	-	5	794	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ZNF585A_ENST00000355533.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T124S			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCATATGGGTTTTCTGGTG	0.388000													23	105					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554604	44554604	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr18:44554604C>T	ENST00000330682.2	-	1	1845	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTTGTAGTCTCGAATTGCCTT	0.602000													8	394					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400848	195400848	+	RNA	SNP	G	G	A	rs7635190	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400848G>A	ENST00000445430.1	+	0	1444																											TCGCAGAGTCGTGCAGGCCTG	0.552000													4	47					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141800609	141800609	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:141800609A>G	ENST00000475668.2	+	68	7936	c.7882A>G	c.(7882-7884)Aaa>Gaa	p.K2628E	MGAM_ENST00000549489.2_Missense_Mutation_p.K1732E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1732					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCCGCCAGAAATTCATGGG	0.483000													5	6					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824467	54824467	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:54824467G>A	ENST00000243911.2	+	1	680	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	227					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AATGGTCATTGTGTGCCTCAT	0.577000													53	45					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421468	6421468	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:6421468C>T	ENST00000396988.3	+	2	306	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R26W|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R26W	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	26					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTATGGGGGCCGGCATCGAGC	0.617000													4	78					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33639792	33639792	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:33639792A>G	ENST00000361680.2	+	5	733	c.655A>G	c.(655-657)Atc>Gtc	p.I219V	WDR88_ENST00000355868.3_Missense_Mutation_p.I219V			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	219										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCGAGAACATCACCACCGT	0.502000													28	120					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939228	14939228	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:14939228T>C	ENST00000313519.5	+	2	612	c.381T>C	c.(379-381)gcT>gcC	p.A127A	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.A187A	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	187					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCAATGAAGCTACCTTTGGTT	0.363000													34	46					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:20612258C>A	ENST00000333629.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483000													51	78					8.72198e-27	9.98299e-27	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156712414	156712414	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:156712414G>A	ENST00000347377.6	+	2	474	c.43G>A	c.(43-45)Gac>Aac	p.D15N	CYFIP2_ENST00000541131.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D15N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D15N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	15					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCAACGTGGACCTGCTTGA	0.537000													6	4					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921004	206921004	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:206921004G>C	ENST00000403263.1	-	4	1286	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	294					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTATACATGAGAAGTGTGGAG	0.517000													25	60					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54003562	54003562	+	Silent	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:54003562A>G	ENST00000396328.1	-	8	1067	c.828T>C	c.(826-828)ggT>ggC	p.G276G	WDR72_ENST00000559418.1_Silent_p.G276G|WDR72_ENST00000557913.1_Silent_p.G275G|WDR72_ENST00000360509.5_Silent_p.G276G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	276										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTAACTGTGACCATCTTCTG	0.438000													5	38					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118931403	118931403	+	Missense_Mutation	SNP	C	C	G	rs72655939	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:118931403C>G	ENST00000483209.1	-	8	1669	c.1028G>C	c.(1027-1029)gGt>gCt	p.G343A	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G343A|B4GALT4_ENST00000393765.2_Missense_Mutation_p.G343A|B4GALT4_ENST00000467604.1_3'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	343					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGTCATGCACCAAACCAGAA	0.383000													20	55					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094611	150094611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:150094611C>T	ENST00000329630.5	+	3	1149	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCTTCCGCCAGAAGCAGCA	0.741000													5	14					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400841	195400841	+	RNA	SNP	C	C	A	rs7615369	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437																											CTGAGCATCGCAGAGTCGTGC	0.552000													5	48					0.000442599	0.000452118	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105876451	105876451	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:105876451G>A	ENST00000372548.4	+	6	1381	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	CXorf57_ENST00000372544.2_Silent_p.S424S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	424										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAACATCGCAGCCAGAAA	0.318000													19	5					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683707	100683707	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:100683707G>T	ENST00000306151.4	+	3	9074	c.9010G>T	c.(9010-9012)Gct>Tct	p.A3004S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3004	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.517000													173	478					1.34047e-99	1.55298e-99	1	1	0
MAPK6	5597	broad.mit.edu	37	15	52356849	52356849	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:52356849C>G	ENST00000261845.5	+	6	2625	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	606					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACTGTTTTTTCATAAATCAGT	0.403000													25	31					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	105					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18060487	18060487	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:18060487G>A	ENST00000205890.5	+	50	9069	c.8731G>A	c.(8731-8733)Gtg>Atg	p.V2911M	MYO15A_ENST00000418233.3_Missense_Mutation_p.V175M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2911	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.V2911M(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGGCTGCGTGGTTCGCAG	0.672000													9	23					0	0	1	0	0
GRIA4	0	broad.mit.edu	37	11	105483157	105483157	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:105483157C>T	ENST00000393127.2	+	3	689	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GRIA4_ENST00000527669.1_Silent_p.N81N|GRIA4_ENST00000525187.1_Silent_p.N81N|GRIA4_ENST00000282499.5_Silent_p.N81N|GRIA4_ENST00000393125.2_Silent_p.N81N|GRIA4_ENST00000428631.2_Silent_p.N81N|GRIA4_ENST00000530497.1_Silent_p.N81N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	81					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGTAACAAACGCCTGTAAGT	0.363000													11	4					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350557	71350557	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:71350557T>A	ENST00000545866.1	-	1	1201	c.834A>T	c.(832-834)aaA>aaT	p.K278N	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K278N			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	278										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CCGACAGGCCTTTGAGGAATT	0.502000													56	70					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	107					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:181702035G>A	ENST00000526775.1	+	19	2921	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R545Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R870Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R938Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R889Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R919Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R938Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	938					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R938Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAGCCTCCCGGAGCAGGTCT	0.642000													46	90					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10699459	10699459	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:10699459C>T	ENST00000377022.3	-	21	5137	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCGCGGGGCCCTCTGCCGC	0.746000													4	6					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164617	139164617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr8:139164617G>A	ENST00000395297.1	-	13	2271	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	701										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCCTGCTTCGGGCCTCTGAC	0.557000										HNSCC(54;0.14)			16	30					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176793982	176793982	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:176793982G>A	ENST00000408923.3	+	5	618	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	144	RGS.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCTTGGCGAGGAGGTGCT	0.637000													34	59					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	2387	2387	+	RNA	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrM:2387T>C	ENST00000387347.2	+	0	717					NR_039705.1																						CAGCCCAATATCTACAATCAA	0.378000													49	1					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696730	47696730	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:47696730G>C	ENST00000393331.3	-	6	688	c.218C>G	c.(217-219)cCc>cGc	p.P73R	SPOP_ENST00000504102.1_Missense_Mutation_p.P73R|SPOP_ENST00000503676.1_Missense_Mutation_p.P73R|SPOP_ENST00000393328.2_Missense_Mutation_p.P73R|SPOP_ENST00000347630.2_Missense_Mutation_p.P73R|SPOP_ENST00000513080.1_5'UTR	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	73	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TAACCCTTTGGGGTTTACTCG	0.393000										Prostate(2;0.17)			25	2					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045104	35045104	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:35045104G>T	ENST00000290374.4	-	2	1017	c.541C>A	c.(541-543)Cta>Ata	p.L181I		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	181					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGTGCGTAGACCTGATGGG	0.493000													4	110					0.150653	0.150653	1	1	0
UBE2L6	9246	broad.mit.edu	37	11	57335061	57335061	+	Silent	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:57335061C>A	ENST00000287156.4	-	1	219	c.24G>T	c.(22-24)gtG>gtT	p.V8V	UBE2L6_ENST00000340573.4_Intron	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	8					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						CGGTTACCTTCACCACTCGCA	0.662000													5	10					0.0215528	0.021782	1	1	0
SDR9C7	121214	broad.mit.edu	37	12	57327822	57327822	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:57327822G>T	ENST00000293502.1	-	1	367	c.224C>A	c.(223-225)aCc>aAc	p.T75N		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	75						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAGTAGGGTGGTCTGCAGCCG	0.577000													56	35					7.89702e-26	8.93116e-26	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732884	152732884	+	Missense_Mutation	SNP	C	C	T	rs148079077		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:152732884C>T	ENST00000368773.1	+	2	878	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	KPRP_ENST00000606109.1_Missense_Mutation_p.R274C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	274	Pro-rich.					cytoplasm		p.R274C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACCAAGACGTTTTGAGCC	0.592000													63	39					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													7	124	---	---	---	---					
RP11-296A18.3	0	broad.mit.edu	37	1	51662882	51662882	+	RNA	DEL	A	A	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:51662882delA	ENST00000366181.2	-	0	250																		p.0?(2)									aaataaaaataaaaaaaaaTT	0.502													3	5	---	---	---	---					
RP11-14N7.2	0	broad.mit.edu	37	1	148948176	148948181	+	RNA	DEL	GAGAGA	GAGAGA	-	rs71805475		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:148948176_148948181delGAGAGA	ENST00000539543.1	+	0	254					NR_027355.1																						agaggaagaggagagagagagagaga	0.408													4	4	---	---	---	---					
AC062028.1	0	broad.mit.edu	37	2	11253956	11253974	+	RNA	DEL	CTTCCTTCCTTCCTTTCCC	CTTCCTTCCTTCCTTTCCC	-	rs61101112		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:11253956_11253974delCTTCCTTCCTTCCTTTCCC	ENST00000396164.1	-	0	984					NR_040080.1																						ctccttccttcttccttccttcctttccccttccttcct	0.521													2	4	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55276891	55276892	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:55276891_55276892delCG	ENST00000337526.6	-	1	788_789	c.545_546delCG	c.(544-546)tfs	p.S182fs	RTN4_ENST00000402434.2_Frame_Shift_Del_p.S154fs|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Frame_Shift_Del_p.S182fs|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000357732.4_Frame_Shift_Del_p.S182fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	182					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCACTGAGCCCGAGGAGCCCCT	0.757													2	4	---	---	---	---					
AC097532.2	0	broad.mit.edu	37	2	133045165	133045166	+	RNA	DEL	GA	GA	-	rs112889460		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:133045165_133045166delGA	ENST00000440802.1	-	0	224																											ggcatgtttggagagtagctgg	0.545													4	2	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400814	195400815	+	RNA	INS	-	-	TT			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411																											ACCTGGTTGTCTGGTCAGGCAT	0.574													7	53	---	---	---	---					
SEC16A	9919	broad.mit.edu	37	9	139342755	139342756	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:139342755_139342756insG	ENST00000398335.1	-	2	1676_1677	c.276_277insC	c.(274-279)cccctcfs	p.L93fs	SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000313084.5_Frame_Shift_Ins_p.L93fs|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000313050.7_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	667					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		agaatggaggtGGGAGCAGATC	0.559													2	4	---	---	---	---					
UTF1	8433	broad.mit.edu	37	10	135044121	135044121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:135044121delC	ENST00000304477.2	+	1	344	c.329delC	c.(328-330)acfs	p.T110fs		NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN	undifferentiated embryonic cell transcription factor 1	110	Pro-rich.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GTGCGCCGCACCCCCGCGCAG	0.736													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:7579575delG	ENST00000420246.2	-	4	244	c.112delC	c.(112-114)aafs	p.Q38fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q38fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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)		TCCATTGCTTGGGACGGCAAG	0.592		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)			210	27	---	---	---	---					
AC011524.1	0	broad.mit.edu	37	19	29379252	29379253	+	RNA	INS	-	-	AC	rs138105063	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:29379252_29379253insAC	ENST00000591285.1	+	0	362																											CAGGACCCTGGGCAGAGTTCCG	0.683													4	9	---	---	---	---					
RP4-742C19.12	0	broad.mit.edu	37	22	39487824	39487825	+	RNA	DEL	GT	GT	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:39487824_39487825delGT	ENST00000424436.1	+	0	163																											GGCCTGAGGGGTGTGTGTGGGG	0.629													2	4	---	---	---	---