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
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647000													3	104					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071606	240071606	+	Silent	SNP	C	C	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:240071606C>A	ENST00000255380.4	+	5	1634	c.855C>A	c.(853-855)ggC>ggA	p.G285G		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	285					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCCCACGGGCAGTTCTCGAA	0.517000													16	21					1.3612e-06	1.48495e-06	1	1	0
CRISP2	7180	broad.mit.edu	37	6	49665595	49665595	+	Missense_Mutation	SNP	A	A	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:49665595A>T	ENST00000339139.4	-	8	729	c.493T>A	c.(493-495)Tat>Aat	p.Y165N		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	165						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.328000													62	92					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:86178909G>A	ENST00000321764.3	+	4	729	c.427G>A	c.(427-429)Gct>Act	p.A143T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	143					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						AGATGGACTGGCTGTCTTGGG	0.418000													38	38					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462371	5462371	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:5462371C>T	ENST00000296564.7	+	13	3146	c.2924C>T	c.(2923-2925)gCt>gTt	p.A975V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	975										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGAGAGAAGCTGCAGTGCAG	0.478000													9	11					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904954	23904954	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr13:23904954T>A	ENST00000382298.3	-	10	13649	c.13061A>T	c.(13060-13062)cAt>cTt	p.H4354L	SACS_ENST00000402364.1_Missense_Mutation_p.H3604L|SACS_ENST00000382292.3_Missense_Mutation_p.H4354L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4354	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTCTGCAAATGTTTAAAAAC	0.383000													40	6					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	167					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219890815	219890815	+	Missense_Mutation	SNP	G	G	A	rs141456868	by1000genomes	TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:219890815G>A	ENST00000341552.5	-	14	2361	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	CCDC108_ENST00000453220.1_Missense_Mutation_p.R760W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R760W	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGTGCCCGCACCGTCAGG	0.592000													4	89					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			81	96					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223441914	223441914	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:223441914G>A	ENST00000343846.3	-	3	1098	c.465C>T	c.(463-465)taC>taT	p.Y155Y	SUSD4_ENST00000366878.4_Silent_p.Y155Y|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.Y155Y|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	155	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTAGGTCGGGGTACCGGATCT	0.448000													3	76					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394056	154394056	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:154394056C>T	ENST00000435029.4	+	1	797	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	213	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCCCGATCTCATGCCATCTT	0.468000													40	34					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													3	46					0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74383472	74383472	+	Silent	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr17:74383472A>G	ENST00000545180.1	+	8	1769	c.960A>G	c.(958-960)gtA>gtG	p.V320V	SPHK1_ENST00000323374.4_Silent_p.V406V|SPHK1_ENST00000392496.3_Silent_p.V320V|SPHK1_ENST00000590959.1_Silent_p.V334V|SPHK1_ENST00000592299.1_Silent_p.V320V			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	320					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						CCTACTTGGTATATGTGCCCG	0.592000													25	31					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													3	55					0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11718892	11718892	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:11718892G>A	ENST00000251546.4	+	4	700	c.463G>A	c.(463-465)Gac>Aac	p.D155N	FBXO44_ENST00000251547.5_Silent_p.A196A|FBXO44_ENST00000376760.1_Missense_Mutation_p.D155N|FBXO44_ENST00000376762.4_Missense_Mutation_p.D155N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D187N|FBXO44_ENST00000376770.1_Silent_p.A196A	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACCCGGCGACCATCCAGC	0.672000													53	42					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98999896	98999896	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:98999896G>A	ENST00000393504.1	+	5	858	c.441G>A	c.(439-441)acG>acA	p.T147T	CNGA3_ENST00000409937.1_Silent_p.T151T|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.T147T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	147					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAACAACACGGAGGAGGAGT	0.587000													15	81					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178579222	178579222	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:178579222C>T	ENST00000251582.7	-	10	1651	c.1550G>A	c.(1549-1551)tGc>tAc	p.C517Y	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.C517Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	517	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGGCTGCACCACAGCTG	0.607000													15	19					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17639352	17639352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr20:17639352C>A	ENST00000377813.1	-	3	2104	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.E601*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	601	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GAAGCTGACTCTGTCTTTTTA	0.517000													4	49					0.000602214	0.000637639	1	1	0
FAM217A	222826	broad.mit.edu	37	6	4069773	4069773	+	Silent	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:4069773T>C	ENST00000274673.3	-	7	1087	c.684A>G	c.(682-684)ccA>ccG	p.P228P	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	228																	TTATTGTTTCTGGCTTCAAGT	0.368000													10	99					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634109	27634109	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:27634109A>G	ENST00000305188.8	+	3	522	c.284A>G	c.(283-285)aAt>aGt	p.N95S	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	95					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGTACCTCAATCCACTGGAG	0.358000									SC Phocomelia syndrome				7	44					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84634311	84634311	+	Splice_Site	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:84634311G>A	ENST00000369681.4	+	10	954	c.814_splice	c.e10+1	p.G272_splice		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	272					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GAAAGATACAGGTATGCTGTG	0.348000													68	98					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120286533	120286533	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:120286533G>T	ENST00000369407.3	+	11	2877	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.R491L			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	491					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GCAGGCGTGCGGCTGCTGTCC	0.582000											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	128					0.000978159	0.00100611	1	1	0
UBP1	7342	broad.mit.edu	37	3	33454278	33454278	+	Silent	SNP	G	G	A	rs143011066		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr3:33454278G>A	ENST00000283629.3	-	4	913	c.384C>T	c.(382-384)taC>taT	p.Y128Y	UBP1_ENST00000283628.5_Silent_p.Y128Y|UBP1_ENST00000447368.2_Silent_p.Y128Y	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	128					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GATGCTCTGTGTATTGTAGCC	0.453000													4	144					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61666066	61666066	+	Silent	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr10:61666066T>C	ENST00000263102.6	-	1	348	c.117A>G	c.(115-117)ggA>ggG	p.G39G		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	39	Poly-Gly.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		cgccgccgcctcccccgccgc	0.726000			T	RET	NSCLC								9	42					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280890	238280890	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:238280890C>T	ENST00000295550.4	-	9	4222	c.3770G>A	c.(3769-3771)aGg>aAg	p.R1257K	COL6A3_ENST00000392003.2_Missense_Mutation_p.R850K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1056K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R650K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1051K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1051K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1051K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1057K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1257	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAACCAGCCTCTCTATGAG	0.582000													5	52					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15096620	15096620	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:15096620A>G	ENST00000523376.1	+	8	1395	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	CALCB_ENST00000533448.1_Missense_Mutation_p.S34G|CALCB_ENST00000324229.6_Missense_Mutation_p.S34G			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	34					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGCCCTGGAGAGCAGCCCAGA	0.617000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	57					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135287541	135287541	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:135287541T>C	ENST00000367837.5	-	17	2175	c.1969A>G	c.(1969-1971)Aaa>Gaa	p.K657E	HBS1L_ENST00000367826.2_Missense_Mutation_p.K615E|HBS1L_ENST00000527578.1_Missense_Mutation_p.K493E|HBS1L_ENST00000415177.2_Missense_Mutation_p.K592E|HBS1L_ENST00000367824.4_Missense_Mutation_p.K493E|HBS1L_ENST00000445176.2_Missense_Mutation_p.K381E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	657					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTAAAGTCTTTATATAGCTCA	0.363000													6	160					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887535	23887535	+	Silent	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr14:23887535C>T	ENST00000355349.3	-	30	4215	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1351T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTGGCCTCCGTCTCCTCCT	0.672000													3	110					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													7	126					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55088550	55088550	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:55088550A>T	ENST00000505374.1	+	17	1476	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.K313*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.K442*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.K428*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	462	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAATGAAGAAGTTAATTTC	0.368000													31	34					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85639709	85639709	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr4:85639709G>A	ENST00000322366.6	-	47	7976	c.7569C>T	c.(7567-7569)taC>taT	p.Y2523Y	WDFY3_ENST00000295888.4_Silent_p.Y2540Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2540						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGCACAGCGGTACATGTGTT	0.408000													3	56					0	0	1	0	0
RP11-190P13.2	0	broad.mit.edu	37	3	114998012	114998012	+	RNA	DEL	G	G	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr3:114998012delG	ENST00000459855.1	+	0	338																											GACAACAATAGGGACCATGAT	0.403													2	4	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													7	76	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													3	4	---	---	---	---					
TUSC1	286319	broad.mit.edu	37	9	25678177	25678178	+	In_Frame_Ins	INS	-	-	CGC			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr9:25678177_25678178insCGC	ENST00000358022.3	-	1	678_679	c.142_143insGCG	c.(142-144)ggg>GCGggg	p.47_48insA		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	47	Gly-rich.									kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		tcgccagcccacgccgccgccg	0.797													3	5	---	---	---	---					
KDM2A	22992	broad.mit.edu	37	11	66995593	66995593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:66995593delC	ENST00000529006.2	+	11	1489	c.1043delC	c.(1042-1044)tcfs	p.S348fs	KDM2A_ENST00000398645.2_Frame_Shift_Del_p.S348fs|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCAACCGTTCCCACCTAACT	0.453													70	88	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	22	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													3	5	---	---	---	---					
Z97634.5	0	broad.mit.edu	37	16	437287	437288	+	RNA	INS	-	-	A	rs137908843		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:437287_437288insA	ENST00000412293.1	+	0	521					NR_024453.2																						cttgtcaccataaaaaaaaaaa	0.426													2	4	---	---	---	---					
DBP	1628	broad.mit.edu	37	19	49139149	49139149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr19:49139149delC	ENST00000222122.5	-	2	681	c.238delG	c.(238-240)cafs	p.A80fs	DBP_ENST00000601104.1_Frame_Shift_Del_p.A80fs	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	80					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCCACCACTGCCCCAGCCGGG	0.761													2	4	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													8	9	---	---	---	---					
GGA1	26088	broad.mit.edu	37	22	38013055	38013055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:38013055delG	ENST00000414350.3	+	3	642	c.255delG	c.(253-255)aafs	p.K85fs	GGA1_ENST00000406772.1_Intron|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000381756.5_Splice_Site_p.K85_splice|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000325180.8_Intron	NM_001001561.2	NP_001001561.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	0	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACGACACCAAGGGAGGCCAAG	0.622													2	4	---	---	---	---					
