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
MME	4311	broad.mit.edu	37	3	154832920	154832920	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:154832920G>C	ENST00000460393.1	+	4	454	c.334G>C	c.(334-336)Gat>Cat	p.D112H	MME_ENST00000462745.1_Missense_Mutation_p.D112H|MME_ENST00000477669.1_3'UTR|MME_ENST00000492661.1_Missense_Mutation_p.D112H|MME_ENST00000360490.2_Missense_Mutation_p.D112H|MME_ENST00000493237.1_Missense_Mutation_p.D112H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	112					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTTTAAGAGATGAACTAGA	0.378000													9	69					0	0	0.006214	0	0
TMC5	79838	broad.mit.edu	37	16	19501762	19501762	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:19501762C>G	ENST00000396229.2	+	18	3368	c.2619C>G	c.(2617-2619)ctC>ctG	p.L873L	TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.L627L|TMC5_ENST00000542583.2_Silent_p.L873L|TMC5_ENST00000541464.1_Silent_p.L821L|TMC5_ENST00000561503.1_Silent_p.L514L|TMC5_ENST00000564959.1_Silent_p.L556L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	873						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTGCCTCTCTTCATTCACT	0.483000													11	128					0	0	0.008291	0	0
RPL7	6129	broad.mit.edu	37	8	74204485	74204485	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:74204485G>A	ENST00000396467.1	-	3	297	c.159C>T	c.(157-159)atC>atT	p.I53I	RPL7_ENST00000352983.2_Silent_p.I93I|RPL7_ENST00000396466.1_Silent_p.I53I|RPL7_ENST00000396465.1_Silent_p.I53I	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	93	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CTCTGATTCTGATGACAAACG	0.413000													9	71					0	0	0.008291	0	0
DHX9	1660	broad.mit.edu	37	1	182823168	182823168	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:182823168C>T	ENST00000367549.3	+	6	591	c.481C>T	c.(481-483)Cta>Tta	p.L161L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	161	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTACAGACTCTAGAATCAGA	0.323000													11	84					0	0	0.001368	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201744	193201744	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:193201744G>A	ENST00000342695.4	-	8	1111	c.789C>T	c.(787-789)gtC>gtT	p.V263V	ATP13A4_ENST00000392443.3_Silent_p.V263V|ATP13A4_ENST00000295548.3_Silent_p.V263V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	263					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACATACAGAGACCGTAATGC	0.338000													6	108					0	0	0.001984	0	0
PROZ	8858	broad.mit.edu	37	13	113826116	113826116	+	Silent	SNP	C	C	T	rs74115810		TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr13:113826116C>T	ENST00000342783.4	+	9	973	c.966C>T	c.(964-966)ctC>ctT	p.L322L	PROZ_ENST00000375547.2_Silent_p.L300L	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	300	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGGGCCTCCTCAGCGGCTGGG	0.662000													8	32					0	0	0.004482	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653829	46653829	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:46653829C>T	ENST00000253255.5	-	1	5390	c.5391G>A	c.(5389-5391)gtG>gtA	p.V1797V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1797					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTTTGCTCTCACTTGCCTCA	0.413000													5	135					0	0	0.001984	0	0
SNAPC4	6621	broad.mit.edu	37	9	139277757	139277757	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:139277757C>T	ENST00000298532.2	-	15	2232	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	622					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTCTCCTCTCCAGGAGCCGCG	0.736000													4	10					0	0	0.000248	0	0
IFNB1	3456	broad.mit.edu	37	9	21077774	21077774	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:21077774C>T	ENST00000380232.2	-	1	169	c.95G>A	c.(94-96)aGa>aAa	p.R32K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	32					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	ATTGCTGCTTCTTTGTAGGAA	0.458000													5	29					0	0	0.001984	0	0
ZNF221	7638	broad.mit.edu	37	19	44469137	44469137	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:44469137C>G	ENST00000251269.5	+	4	445	c.117C>G	c.(115-117)ttC>ttG	p.F39L	ZNF221_ENST00000587682.1_Missense_Mutation_p.F39L|ZNF221_ENST00000592350.1_Missense_Mutation_p.F39L	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTGTGGTCTTCACTGAGGAGG	0.483000													8	172					0	0	0.003080	0	0
WDR36	134430	broad.mit.edu	37	5	110428061	110428061	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:110428061C>G	ENST00000506538.2	+	1	648	c.75C>G	c.(73-75)ctC>ctG	p.L25L	WDR36_ENST00000513710.2_Silent_p.L25L|WDR36_ENST00000505303.1_5'UTR	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	25			L -> P (possible disease-susceptibility mutation).		response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCTGCAGCTCTGGCAGAGGA	0.587000													7	86					0	0	0.001984	0	0
BHMT2	23743	broad.mit.edu	37	5	78379134	78379134	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:78379134C>G	ENST00000255192.3	+	6	784	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	BHMT2_ENST00000521567.1_Missense_Mutation_p.L176V|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	240	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGTGCAGCCTCTGGGGTTCCA	0.557000													10	94					0	0	0.008291	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353199	23353199	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:23353199C>T	ENST00000379361.4	+	1	1067	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	69					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCGCAACCTCGTTAACAGCC	0.662000													10	39					0	0	0.006214	0	0
TRIM24	8805	broad.mit.edu	37	7	138264004	138264004	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:138264004C>G	ENST00000343526.4	+	15	2527	c.2312C>G	c.(2311-2313)tCt>tGt	p.S771C	TRIM24_ENST00000415680.2_Missense_Mutation_p.S737C			O15164	TIF1A_HUMAN	tripartite motif containing 24	771	Nuclear receptor binding site (NRBS).				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGTCAGAGCTCTACTTCTGAG	0.398000													10	112					0	0	0.000978	0	0
PRDX5	25824	broad.mit.edu	37	11	64088497	64088497	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:64088497G>C	ENST00000265462.4	+	5	624	c.496G>C	c.(496-498)Gat>Cat	p.D166H	PRDX5_ENST00000347941.4_Missense_Mutation_p.D77H|PRDX5_ENST00000352435.4_Missense_Mutation_p.D122H	NM_012094.4	NP_036226.1	P30044	PRDX5_HUMAN	peroxiredoxin 5	166	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CTTATTACTAGATGATTCGCT	0.512000													7	135					0	0	0.001984	0	0
TCHH	7062	broad.mit.edu	37	1	152080046	152080046	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:152080046C>T	ENST00000368804.1	-	2	5646	c.5647G>A	c.(5647-5649)Gaa>Aaa	p.E1883K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1883	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGATGTGTTCTTCCCGTAAT	0.572000													10	89					0	0	0.008291	0	0
XIRP2	129446	broad.mit.edu	37	2	168100037	168100037	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:168100037A>G	ENST00000409195.1	+	9	2224	c.2135A>G	c.(2134-2136)gAg>gGg	p.E712G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E712G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E490G|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	537					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGTGGATGAGGTTCATTTA	0.363000													5	29					0	0	0.001984	0	0
TTLL4	9654	broad.mit.edu	37	2	219612093	219612093	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:219612093G>C	ENST00000392102.1	+	10	2587	c.2247G>C	c.(2245-2247)caG>caC	p.Q749H	TTLL4_ENST00000258398.4_Missense_Mutation_p.Q749H|TTLL4_ENST00000442769.1_Missense_Mutation_p.Q685H|TTLL4_ENST00000457313.1_Missense_Mutation_p.Q584H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	749	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCTGGTACAGAGGTGAGCCT	0.552000													4	39					0	0	0.000602	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060319	144060319	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:144060319G>A	ENST00000056217.5	+	2	731	c.557G>A	c.(556-558)tGc>tAc	p.C186Y		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	186					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TATTCTCCCTGCGAAGAGCAT	0.502000													9	98					0	0	0.001368	0	0
COL19A1	1310	broad.mit.edu	37	6	70871820	70871820	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:70871820G>C	ENST00000322773.4	+	35	2423	c.2321G>C	c.(2320-2322)gGt>gCt	p.G774A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G396A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	774	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCATTCCAGGTGCTCCAGGC	0.393000													7	48					0	0	0.003080	0	0
ZNF334	55713	broad.mit.edu	37	20	45130568	45130568	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:45130568G>C	ENST00000457685.2	-	6	2619	c.1296C>G	c.(1294-1296)ttC>ttG	p.F432L	ZNF334_ENST00000593880.1_Missense_Mutation_p.F493L|ZNF334_ENST00000347606.4_Missense_Mutation_p.F470L			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACTTATGGCAGAAAAATTTCC	0.353000													5	92					0	0	0.001168	0	0
PDE1C	5137	broad.mit.edu	37	7	31793087	31793087	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:31793087C>T	ENST00000396193.1	-	19	2814	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	PDE1C_ENST00000396191.1_Missense_Mutation_p.D681N|PDE1C_ENST00000321453.7_Missense_Mutation_p.D681N	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	681					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGATGCTCATCAGTTTTCTTT	0.453000													19	146					0	0	0.008871	0	0
POLG2	11232	broad.mit.edu	37	17	62492601	62492601	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:62492601C>T	ENST00000539111.2	-	1	553	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	162					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.L162L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GTTCCTTACTCAGCTCTTTGT	0.473000													7	85					0	0	0.001984	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917614	144917614	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:144917614G>C	ENST00000529945.1	-	8	2418	c.1979C>G	c.(1978-1980)tCt>tGt	p.S660C	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S660C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S497C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S634C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S284C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S497C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S497C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S497C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S634C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S563C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	497					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTAGAGCAGAGAATTTTTC	0.438000			T	PDGFRB	MPD								9	155					0	0	0.004482	0	0
PFAS	5198	broad.mit.edu	37	17	8172290	8172290	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:8172290C>G	ENST00000314666.6	+	28	3858	c.3725C>G	c.(3724-3726)tCt>tGt	p.S1242C	PFAS_ENST00000545834.1_Missense_Mutation_p.S818C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1242	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCATTTTCTTCTCCGGAACTC	0.597000													4	102					0	0	0.000248	0	0
ATP1A4	480	broad.mit.edu	37	1	160147400	160147400	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:160147400C>G	ENST00000368081.4	+	18	3153	c.2682C>G	c.(2680-2682)ctC>ctG	p.L894L	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.L30L	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	894					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCATCCGCCTCCACTGGGAAG	0.498000													4	83					0	0	0.000248	0	0
ZNF646	9726	broad.mit.edu	37	16	31090472	31090472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:31090472C>T	ENST00000394979.2	+	1	3250	c.2827C>T	c.(2827-2829)Cag>Tag	p.Q943*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.Q943*			O15015	ZN646_HUMAN	zinc finger protein 646	943					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCTGCTGAATCAGCTGCAGCG	0.632000													8	47					0	0	0.003080	0	0
VPS45	11311	broad.mit.edu	37	1	150048382	150048382	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:150048382G>A	ENST00000369130.3	+	4	907	c.361G>A	c.(361-363)Gag>Aag	p.E121K	VPS45_ENST00000535106.1_Missense_Mutation_p.E121K|VPS45_ENST00000369128.5_Missense_Mutation_p.E85K	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	121					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		p.E121Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTGTGGCTGAGGTTCAGGT	0.388000													4	74					0	0	0.000602	0	0
LPPR5	163404	broad.mit.edu	37	1	99470156	99470156	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:99470156C>T	ENST00000370188.3	-	1	432	c.72G>A	c.(70-72)gtG>gtA	p.V24V	LPPR5_ENST00000263177.4_Silent_p.V24V|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		24						integral to membrane	hydrolase activity										ACGCCAGCATCACCGTCCCTG	0.652000													11	49					0	0	0.000978	0	0
LCLAT1	253558	broad.mit.edu	37	2	30748605	30748605	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:30748605G>T	ENST00000309052.4	+	3	472	c.263G>T	c.(262-264)tGg>tTg	p.W88L	LCLAT1_ENST00000540623.1_Missense_Mutation_p.W50L|LCLAT1_ENST00000359433.1_Missense_Mutation_p.W88L|LCLAT1_ENST00000319406.4_Missense_Mutation_p.W88L|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000379509.3_Missense_Mutation_p.W50L	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	88					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GTGGCAACATGGCTCACCCTA	0.458000													13	61					5.50884e-06	7.41137e-06	0.001368	1	0
SLC26A3	1811	broad.mit.edu	37	7	107427285	107427285	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:107427285C>T	ENST00000340010.5	-	8	1142	c.958G>A	c.(958-960)Gac>Aac	p.D320N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D285N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	320					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGATTCATGTCCCCAACCACA	0.468000													10	85					0	0	0.001855	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245630	6245630	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:6245630G>C	ENST00000265978.4	-	2	475	c.117C>G	c.(115-117)gtC>gtG	p.V39V	FAM160A2_ENST00000524416.1_Silent_p.V39V|FAM160A2_ENST00000449352.2_Silent_p.V39V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	39					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATTCTTGAAGACCATGAGGC	0.567000													6	67					0	0	0.001168	0	0
RTN4	57142	broad.mit.edu	37	2	55254100	55254100	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:55254100G>C	ENST00000337526.6	-	3	1378	c.1135C>G	c.(1135-1137)Cct>Gct	p.P379A	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.P173A|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.P173A|RTN4_ENST00000357376.3_Missense_Mutation_p.P173A|RTN4_ENST00000354474.6_Missense_Mutation_p.P147A|RTN4_ENST00000404909.1_Missense_Mutation_p.P173A	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	379					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						TCCCTCATAGGAGCTTCCACT	0.388000													15	93					0	0	0.002450	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622640	65622640	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:65622640C>T	ENST00000327987.4	-	11	2100	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	617										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGTCCTCTCAGATGCTCCC	0.572000													15	105					0	0	0.004007	0	0
OR4A15	81328	broad.mit.edu	37	11	55135643	55135643	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:55135643C>G	ENST00000314706.3	+	1	284	c.284C>G	c.(283-285)tCa>tGa	p.S95*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTTCTTTATCATTCATAGAT	0.433000													3	87					0	0	0.000248	0	0
LLGL1	3996	broad.mit.edu	37	17	18138158	18138158	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:18138158A>G	ENST00000316843.4	+	9	1007	c.911A>G	c.(910-912)cAc>cGc	p.H304R		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	304					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CATAGGGGCCACTTTATCATC	0.587000													6	31					0	0	0.001168	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106111667	106111667	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:106111667C>A	ENST00000357242.5	+	18	2947	c.2773C>A	c.(2773-2775)Ctt>Att	p.L925I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L919I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	925						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGGAGATGAACTTTCCAAGGA	0.343000													5	44					1.06961e-07	1.45401e-07	0.003080	1	0
NUMA1	4926	broad.mit.edu	37	11	71733399	71733399	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:71733399C>G	ENST00000393695.3	-	7	689	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	NUMA1_ENST00000351960.6_Missense_Mutation_p.E120Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.E120Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	120					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ATTTTATATTCAAACTGTTCC	0.488000			T	RARA	APL								8	141					0	0	0.004482	0	0
NDUFA5	4698	broad.mit.edu	37	7	123190613	123190613	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:123190613G>C	ENST00000471770.1	-	3	228	c.94C>G	c.(94-96)Ctt>Gtt	p.L32V	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Missense_Mutation_p.L32V			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	32					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	AGAACATCAAGAATCTTTGTG	0.333000													4	78					0	0	0.000602	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683451	182683451	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:182683451G>C	ENST00000292782.4	-	2	247	c.94C>G	c.(94-96)Caa>Gaa	p.Q32E	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.Q17E	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	32	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAGTCATTTTGAGAAAGACAA	0.338000													6	75					0	0	0.001168	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905987	144905987	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:144905987G>C	ENST00000370490.1	+	1	6299	c.2044G>C	c.(2044-2046)Ggc>Cgc	p.G682R	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G682R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G682R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G682R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G682R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	682						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAACAGACGGCCATGTCTA	0.488000													7	67					0	0	0.003080	0	0
EPHB6	2051	broad.mit.edu	37	7	142568550	142568550	+	Splice_Site	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:142568550G>A	ENST00000392957.2	+	20	3746	c.2957_splice	c.e20-1	p.D987_splice	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Splice_Site_p.D710_splice|EPHB6_ENST00000442129.1_Splice_Site_p.D987_splice	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	987	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCCACCAGAGACCTGCCTGC	0.642000													4	49					0	0	0.000248	0	0
ARSE	415	broad.mit.edu	37	X	2856180	2856180	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:2856180G>A	ENST00000545496.1	-	10	1611	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	ARSE_ENST00000381134.3_Silent_p.F415F|ARSE_ENST00000540563.1_Silent_p.F370F			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	415					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACGGTGGGGAACACGTCCA	0.637000													7	141					0	0	0.006214	0	0
ARSE	415	broad.mit.edu	37	X	2856194	2856194	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:2856194G>C	ENST00000545496.1	-	10	1597	c.1306C>G	c.(1306-1308)Ctg>Gtg	p.L436V	ARSE_ENST00000381134.3_Missense_Mutation_p.L411V|ARSE_ENST00000540563.1_Missense_Mutation_p.L366V			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	411					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGTCCATCAGACTCGTGGGC	0.652000													7	132					0	0	0.004482	0	0
RGS3	5998	broad.mit.edu	37	9	116246510	116246510	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:116246510C>T	ENST00000374140.2	+	7	827	c.618C>T	c.(616-618)ttC>ttT	p.F206F	RGS3_ENST00000317613.6_Silent_p.F94F|RGS3_ENST00000350696.5_Silent_p.F206F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	206	C2.			F -> S (in Ref. 3; BAC11328).	inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCACTTCTTCTTGTAAGAGT	0.473000													6	55					0	0	0.001168	0	0
OR51L1	119682	broad.mit.edu	37	11	5020489	5020489	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:5020489G>C	ENST00000321543.1	+	1	277	c.277G>C	c.(277-279)Gag>Cag	p.E93Q		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGCTCCAGAGATCCAGGC	0.488000													4	122					0	0	0.000248	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392759	89392759	+	RNA	SNP	T	T	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:89392759T>C	ENST00000532352.1	+	0	582							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACTCAGACCCTGCTGACTACT	0.468000													7	34					0	0	0.003080	0	0
PTPN9	5780	broad.mit.edu	37	15	75762273	75762273	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:75762273G>A	ENST00000306726.2	-	12	1939	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	476	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.S476L(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGCTGCTGAGGAAGGGAC	0.522000													7	52					0	0	0.003080	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482742	102482742	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:102482742G>A	ENST00000360184.4	+	37	7694	c.7530G>A	c.(7528-7530)atG>atA	p.M2510I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2510					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGCTAAAAATGAGAGCAGAGC	0.438000													5	51					0	0	0.000602	0	0
OR5M8	219484	broad.mit.edu	37	11	56258211	56258211	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:56258211G>C	ENST00000327216.2	-	1	660	c.636C>G	c.(634-636)atC>atG	p.I212M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAATACATATGATGAAGAGAG	0.433000													3	50					0	0	0.004672	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124408	31124408	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:31124408C>T	ENST00000304166.4	+	8	784	c.495C>T	c.(493-495)ctC>ctT	p.L165L	ADCYAP1R1_ENST00000396211.2_Silent_p.L165L|ADCYAP1R1_ENST00000409489.1_Silent_p.L165L|ADCYAP1R1_ENST00000409363.1_Silent_p.L144L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	165					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCACATCCCTCGTCACCCTCA	0.557000													6	78					0	0	0.001168	0	0
MARS2	92935	broad.mit.edu	37	2	198571795	198571795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:198571795C>T	ENST00000282276.6	+	1	1709	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	556					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTTCTTGCCTCGATTCTATGG	0.537000													5	135					0	0	0.003080	0	0
NPAP1	23742	broad.mit.edu	37	15	24923064	24923064	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:24923064A>T	ENST00000329468.2	+	1	2524	c.2050A>T	c.(2050-2052)Agt>Tgt	p.S684C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTAGTGAACAGTGCCTCTAC	0.527000													24	104					0	0	0.002780	0	0
NFRKB	4798	broad.mit.edu	37	11	129744182	129744182	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:129744182G>C	ENST00000446488.3	-	20	2208	c.2105C>G	c.(2104-2106)cCt>cGt	p.P702R	NFRKB_ENST00000304521.5_Missense_Mutation_p.P702R|NFRKB_ENST00000524794.1_Missense_Mutation_p.P727R|NFRKB_ENST00000524746.1_Missense_Mutation_p.P702R	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	702	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGCTCAGAAGGGCCACTGCT	0.547000													4	69					0	0	0.000248	0	0
NSRP1	84081	broad.mit.edu	37	17	28511724	28511724	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:28511724G>A	ENST00000247026.5	+	7	772	c.709G>A	c.(709-711)Gat>Aat	p.D237N	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	237					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						TCTTCAAACTGATGTGAAAGT	0.393000													4	35					0	0	0.000248	0	0
OCEL1	79629	broad.mit.edu	37	19	17337105	17337105	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:17337105G>A	ENST00000215061.4	+	1	93	c.49G>A	c.(49-51)Gag>Aag	p.E17K	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.E17K	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	17										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TCCAGGCTCGGAGCTCCAGAC	0.706000													4	31					0	0	0.000248	0	0
RPL19	6143	broad.mit.edu	37	17	37357505	37357505	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:37357505C>T	ENST00000579260.1	+	2	442	c.39C>T	c.(37-39)ctC>ctT	p.L13L	RPL19_ENST00000225430.4_Silent_p.L15L|RPL19_ENST00000579374.1_Silent_p.L12L|RPL19_ENST00000582193.1_Silent_p.L13L			P84098	RL19_HUMAN	ribosomal protein L19	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CTAGTGTCCTCCGCTGTGGCA	0.502000													7	79					0	0	0.003080	0	0
VSTM1	284415	broad.mit.edu	37	19	54561689	54561689	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:54561689C>T	ENST00000338372.2	-	3	401	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	VSTM1_ENST00000376626.1_Missense_Mutation_p.E76K|VSTM1_ENST00000425006.2_Missense_Mutation_p.E76K|VSTM1_ENST00000366170.2_Intron	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	76	Ig-like V-type.					integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GCTTCGTTTTCTGCCGAGCTC	0.517000													4	92					0	0	0.001168	0	0
HBP1	26959	broad.mit.edu	37	7	106840728	106840728	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:106840728G>C	ENST00000222574.4	+	10	1695	c.1509G>C	c.(1507-1509)aaG>aaC	p.K503N	HBP1_ENST00000468410.1_Missense_Mutation_p.K503N|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.K503N	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	503					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						ACTGTTGGAAGAGGAAAAGAA	0.378000													5	25					0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158590152	158590152	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:158590152C>T	ENST00000368148.3	-	44	6405	c.6225G>A	c.(6223-6225)ctG>ctA	p.L2075L	SPTA1_ENST00000368147.3_Silent_p.L2072L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2075					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTTCATTCAGGGAGACAC	0.483000													9	45					0	0	0.004482	0	0
NF2	4771	broad.mit.edu	37	22	30061031	30061031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:30061031C>G	ENST00000338641.4	+	9	1304	c.863C>G	c.(862-864)tCa>tGa	p.S288*	NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	288	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTAACTCCTCAAAGCTTCGT	0.353000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				3	15					0	0	0.000248	0	0
GAD1	2571	broad.mit.edu	37	2	171700629	171700629	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:171700629G>A	ENST00000358196.3	+	7	1263	c.713G>A	c.(712-714)gGa>gAa	p.G238E	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	238					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGATAGTTGGATGGTCAAGT	0.378000													4	30					0	0	0.001168	0	0
RAP2B	5912	broad.mit.edu	37	3	152880634	152880634	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:152880634C>T	ENST00000323534.2	+	1	606	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	51					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCGTCGCCGTCGGTGCTGGAG	0.602000													10	74					0	0	0.001855	0	0
CHAT	1103	broad.mit.edu	37	10	50859999	50859999	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:50859999G>A	ENST00000395562.2	+	12	1804	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	CHAT_ENST00000351556.3_Silent_p.Q409Q|CHAT_ENST00000455728.2_Silent_p.Q409Q|CHAT_ENST00000337653.2_Silent_p.Q527Q|CHAT_ENST00000395559.2_Silent_p.Q409Q|CHAT_ENST00000339797.1_Silent_p.Q409Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	527					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTAAGAAGCAGAAATGCAGCC	0.443000													4	32					0	0	0.000248	0	0
DOCK11	139818	broad.mit.edu	37	X	117796680	117796680	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:117796680G>C	ENST00000276204.6	+	45	5075	c.5001G>C	c.(4999-5001)aaG>aaC	p.K1667N	DOCK11_ENST00000276202.7_Missense_Mutation_p.K1667N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1667	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGCGTTCAAGAAAATTACTC	0.373000													5	32					0	0	0.000602	0	0
DNM1	1759	broad.mit.edu	37	9	130984587	130984587	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:130984587G>A	ENST00000341179.7	+	7	1053	c.961G>A	c.(961-963)Gac>Aac	p.D321N	DNM1_ENST00000486160.1_Missense_Mutation_p.D321N|DNM1_ENST00000393594.3_Missense_Mutation_p.D321N|DNM1_ENST00000372923.3_Missense_Mutation_p.D321N|DNM1_ENST00000475805.1_Missense_Mutation_p.D321N	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	321					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCGCCCTGATGACCCAGCTCG	0.627000													8	19					0	0	0.003080	0	0
POMZP3	22932	broad.mit.edu	37	7	76254842	76254842	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:76254842C>G	ENST00000310842.4	-	3	908	c.224G>C	c.(223-225)aGa>aCa	p.R75T	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.R75T|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	75										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CTGTTACCTTCTTTTATTTTC	0.463000													7	154					0	0	0.002450	0	0
GPR128	84873	broad.mit.edu	37	3	100352183	100352183	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:100352183G>A	ENST00000273352.3	+	4	677	c.409G>A	c.(409-411)Gga>Aga	p.G137R		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	137					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGTGACAATAGGAAATTGCAA	0.393000													5	41					0	0	0.000602	0	0
LRRK1	79705	broad.mit.edu	37	15	101592125	101592125	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:101592125G>A	ENST00000284395.5	+	25	4040	c.3640G>A	c.(3640-3642)Gag>Aag	p.E1214K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E1217K|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1217					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCGCTGCAGGAGCTGGTCCC	0.632000													4	24					0	0	0.001168	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80961439	80961439	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:80961439G>C	ENST00000334512.5	+	5	622	c.50G>C	c.(49-51)tGc>tCc	p.C17S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	17					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGACTGCAGTGCATCAAGCAG	0.597000													9	115					0	0	0.006214	0	0
EPHB6	2051	broad.mit.edu	37	7	142566852	142566852	+	Silent	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:142566852G>T	ENST00000392957.2	+	16	3196	c.2409G>T	c.(2407-2409)gtG>gtT	p.V803V	EPHB6_ENST00000411471.2_Silent_p.V526V|EPHB6_ENST00000442129.1_Silent_p.V803V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	803	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCGTGCTGGTGAATAGCCACT	0.637000													6	65					2.7689e-08	3.81362e-08	0.001984	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22873224	22873224	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:22873224C>G	ENST00000283645.4	+	23	3181	c.3051C>G	c.(3049-3051)ctC>ctG	p.L1017L		NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	1017					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CGTTGTCACTCATGGCTGGCA	0.358000													4	56					0	0	0.001168	0	0
POMZP3	22932	broad.mit.edu	37	7	76254922	76254922	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:76254922C>T	ENST00000310842.4	-	3	828	c.144G>A	c.(142-144)ctG>ctA	p.L48L	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Silent_p.L48L|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	48										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TGAGGGCACTCAGTACAGTCT	0.443000													10	120					0	0	0.000978	0	0
WBSCR22	114049	broad.mit.edu	37	7	73107997	73107997	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:73107997G>C	ENST00000265758.2	+	9	698	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	WBSCR22_ENST00000423497.1_Missense_Mutation_p.E214Q|WBSCR22_ENST00000423166.2_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	214						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTTTATACCAGAGGTGAGGGA	0.552000													7	147					0	0	0.003080	0	0
TRPV4	59341	broad.mit.edu	37	12	110232235	110232235	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:110232235G>A	ENST00000418703.2	-	7	1484	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	TRPV4_ENST00000392719.2_Missense_Mutation_p.R417C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R430C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R357C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R417C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R404C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R404C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R464C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	464					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCGAACTTGCGCCACTTGTCC	0.607000													15	87					0	0	0.003163	0	0
UTRN	7402	broad.mit.edu	37	6	144794970	144794970	+	Splice_Site	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:144794970G>A	ENST00000367545.3	+	23	3180		c.e23+1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTGCTCTGTGAGTTCTGC	0.408000													6	41					0	0	0.001168	0	0
EEF2K	29904	broad.mit.edu	37	16	22269882	22269882	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:22269882C>G	ENST00000263026.5	+	10	1571	c.1097C>G	c.(1096-1098)tCt>tGt	p.S366C		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	366					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGGACCCTCTCTGGGAGCCGG	0.547000													4	82					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179425394	179425394	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:179425394C>T	ENST00000589042.1	-	326	85689	c.85465G>A	c.(85465-85467)Gaa>Aaa	p.E28489K	TTN_ENST00000359218.5_Missense_Mutation_p.E19549K|TTN_ENST00000342175.6_Missense_Mutation_p.E19616K|TTN_ENST00000342992.6_Missense_Mutation_p.E25921K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19424K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26848K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26848	Ig-like 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E19616Q(1)|p.E25919Q(1)|p.E25921Q(1)|p.E19549Q(1)		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)			TCACGTTTTTCTACGATGTAA	0.423000													3	31					0	0	0.004672	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596337	41596337	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:41596337G>A	ENST00000330436.3	+	4	522	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	174					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCTTCTTCCTGAGCCGCACAG	0.542000													5	93					0	0	0.000602	0	0
RFWD3	55159	broad.mit.edu	37	16	74695173	74695173	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:74695173C>T	ENST00000361070.4	-	2	272	c.175G>A	c.(175-177)Gag>Aag	p.E59K	RFWD3_ENST00000571750.1_Missense_Mutation_p.E59K	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	59					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGATCACCTCAGCAGGAGCT	0.617000													13	113					0	0	0.001368	0	0
YARS	8565	broad.mit.edu	37	1	33245125	33245125	+	Splice_Site	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:33245125C>G	ENST00000373477.4	-	12	2243		c.e12-1		YARS_ENST00000469100.1_Splice_Site	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TATCCCTTCTCTGGGAAGACA	0.562000													4	50					0	0	0.000602	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519656	137519656	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:137519656G>C	ENST00000367739.4	-	7	1103	c.982C>G	c.(982-984)Cca>Gca	p.P328A	IFNGR1_ENST00000543628.1_Missense_Mutation_p.P300A	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	328					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACTGTTGCTGGAGACAACGGC	0.408000													5	38					0	0	0.000602	0	0
KMT2C	58508	broad.mit.edu	37	7	151945526	151945526	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:151945526C>T	ENST00000355193.2	-	14	2211	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E665K					lysine (K)-specific methyltransferase 2C																		TGCAGTTGTTCTTGCTGCACA	0.403000													8	55					0	0	0.003080	0	0
ADRB2	154	broad.mit.edu	37	5	148206482	148206482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:148206482G>T	ENST00000305988.4	+	1	327	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	30					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGAAAGGGACGAGGTGTGGGT	0.622000													10	94					0.000673444	0.000878844	0.008291	1	0
CCDC78	124093	broad.mit.edu	37	16	774116	774116	+	Missense_Mutation	SNP	C	C	T	rs142170929	byFrequency	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:774116C>T	ENST00000293889.6	-	10	1148	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	348										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTGGTCCTCCCGATGGCTGAA	0.642000													6	46					0	0	0.001984	0	0
IMPG1	3617	broad.mit.edu	37	6	76734932	76734932	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:76734932C>T	ENST00000369963.3	-	4	496	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	IMPG1_ENST00000369950.3_Missense_Mutation_p.E181K			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	181					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACAATGGTTTCACCAGGCTCT	0.343000													6	61					0	0	0.003080	0	0
CEP250	11190	broad.mit.edu	37	20	34059877	34059877	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:34059877G>C	ENST00000397527.1	+	11	1671	c.951G>C	c.(949-951)gaG>gaC	p.E317D	CEP250_ENST00000342580.4_Missense_Mutation_p.E317D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	317					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGTTCAGGAGACAAATCACA	0.413000													5	104					0	0	0.000602	0	0
MDN1	23195	broad.mit.edu	37	6	90390458	90390458	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:90390458C>G	ENST00000369393.3	-	74	12230	c.12115G>C	c.(12115-12117)Gag>Cag	p.E4039Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E4039Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4039					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGACACCACTCTGGAATTGTG	0.522000													3	25					0	0	0.000248	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	58					0	0	0.004672	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	46					0	0	0.000248	0	0
RETSAT	54884	broad.mit.edu	37	2	85577204	85577204	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:85577204G>A	ENST00000295802.4	-	4	870	c.758C>T	c.(757-759)tCt>tTt	p.S253F	RETSAT_ENST00000263854.6_Missense_Mutation_p.S253F|RETSAT_ENST00000457495.2_Missense_Mutation_p.S192F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	253					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTGGAGCTCAGAGGAGGCCCC	0.617000													3	42					0	0	0.004672	0	0
CYB5D2	124936	broad.mit.edu	37	17	4047098	4047098	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:4047098G>A	ENST00000301391.3	+	1	549	c.49G>A	c.(49-51)Gca>Aca	p.A17T	CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	17					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						GGCTGTAGCCGCAGCAGCGGT	0.642000													8	71					0	0	0.003080	0	0
DENND4A	10260	broad.mit.edu	37	15	65968944	65968944	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:65968944G>C	ENST00000443035.3	-	24	4420	c.4205C>G	c.(4204-4206)tCt>tGt	p.S1402C	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1359C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCCCACTGAAGAAAGACTGGT	0.383000													3	17					0	0	0.004672	0	0
NT5DC1	221294	broad.mit.edu	37	6	116559441	116559441	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:116559441G>T	ENST00000319550.4	+	10	1095	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	338							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GAAGAACTCAGAGGGGATGAA	0.468000													5	60					0.000602214	0.000787859	0.000602	1	0
KLHL11	55175	broad.mit.edu	37	17	40021372	40021372	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:40021372C>T	ENST00000319121.3	-	1	312	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	84						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GCTGCTCGTTCTGCCGCCAGG	0.692000													3	8					0	0	0.004672	0	0
NUP205	23165	broad.mit.edu	37	7	135277877	135277877	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:135277877C>T	ENST00000285968.6	+	12	1793	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	589					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCCGTGGCATCACCCAGAAGG	0.438000													11	83					0	0	0.001368	0	0
MECP2	4204	broad.mit.edu	37	X	153296254	153296254	+	Missense_Mutation	SNP	G	G	A	rs62643610		TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:153296254G>A	ENST00000303391.6	-	4	1274	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	MECP2_ENST00000453960.2_Missense_Mutation_p.P354L	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	342					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCGCCCAGGGCTCTTACA	0.627000													9	48					0	0	0.004482	0	0
TMEM119	338773	broad.mit.edu	37	12	108985885	108985885	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:108985885C>A	ENST00000392806.3	-	2	443	c.275G>T	c.(274-276)cGc>cTc	p.R92L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	92						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CACGTACTGGCGGAAGAAGTC	0.632000													4	55					0.000602214	0.000787859	0.000602	1	0
SEMA5A	9037	broad.mit.edu	37	5	9337859	9337859	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:9337859C>G	ENST00000382496.5	-	4	855	c.190G>C	c.(190-192)Gac>Cac	p.D64H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	64	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTCCTGGGTCAAATGTTAAC	0.363000													3	45					0	0	0.004672	0	0
UBN2	254048	broad.mit.edu	37	7	138968377	138968377	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:138968377C>G	ENST00000288561.8	+	15	2726	c.2477C>G	c.(2476-2478)tCt>tGt	p.S826C	UBN2_ENST00000473989.2_Missense_Mutation_p.S909C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	909										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCTGCCTCTTCTCATGCTCTG	0.488000													12	60					0	0	0.001855	0	0
HUWE1	10075	broad.mit.edu	37	X	53585705	53585705	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:53585705C>G	ENST00000342160.3	-	58	8528	c.8071G>C	c.(8071-8073)Gag>Cag	p.E2691Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2691Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2691					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCGCTTCTCTCGCCTTTCT	0.453000													4	118					0	0	0.000248	0	0
MEIS2	4212	broad.mit.edu	37	15	37329042	37329042	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:37329042C>T	ENST00000338564.5	-	9	1319	c.873G>A	c.(871-873)atG>atA	p.M291I	MEIS2_ENST00000340545.5_Missense_Mutation_p.M278I|MEIS2_ENST00000444725.1_Missense_Mutation_p.M291I|MEIS2_ENST00000382766.2_Missense_Mutation_p.M291I|MEIS2_ENST00000557796.2_Missense_Mutation_p.M278I|MEIS2_ENST00000561208.1_Missense_Mutation_p.M291I|MEIS2_ENST00000397620.2_Missense_Mutation_p.M203I|MEIS2_ENST00000559085.1_Missense_Mutation_p.M278I|MEIS2_ENST00000219869.9_Missense_Mutation_p.M145I|MEIS2_ENST00000424352.2_Missense_Mutation_p.M291I|MEIS2_ENST00000559561.1_Missense_Mutation_p.M291I|MEIS2_ENST00000397624.3_Missense_Mutation_p.M203I	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	291					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GCCATGCTCTCATGATATTTG	0.398000													15	63					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216595579	216595579	+	Missense_Mutation	SNP	G	G	C	rs141672841	by1000genomes	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:216595579G>C	ENST00000366943.2	-	2	486	c.100C>G	c.(100-102)Cga>Gga	p.R34G	USH2A_ENST00000366942.3_Missense_Mutation_p.R34G|USH2A_ENST00000307340.3_Missense_Mutation_p.R34G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	34					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAAGACCTCGTGACTCAGTC	0.458000										HNSCC(13;0.011)			5	55					0	0	0.001168	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422373	47422373	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:47422373G>A	ENST00000404338.3	+	1	441	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	147					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ACTTTGAGCAGAAACAAATGC	0.473000													7	36					0	0	0.003080	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518403	106518403	+	RNA	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:106518403C>G	ENST00000390598.2	-	0	426																											CTGTGTCTCTCGCACAGTAAT	0.577000													8	193					0	0	0.004482	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858262	183858262	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:183858262C>G	ENST00000273783.3	+	7	1022	c.900C>G	c.(898-900)gtC>gtG	p.V300V	EIF2B5_ENST00000444495.1_Silent_p.V300V	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	300					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGCCCGTGTCTCCAACCTAC	0.532000													8	245					0	0	0.003080	0	0
RBM41	55285	broad.mit.edu	37	X	106310852	106310852	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:106310852C>G	ENST00000372487.1	-	7	1173	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	RBM41_ENST00000372479.3_Missense_Mutation_p.E383Q	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	383	RRM.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TTTCCAAACTCTATCACCAAT	0.348000													21	142					0	0	0.001523	0	0
TRIM41	90933	broad.mit.edu	37	5	180661721	180661721	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:180661721C>G	ENST00000315073.5	+	6	2549	c.1839C>G	c.(1837-1839)gtC>gtG	p.V613V	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	613	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGAGCGTGTCTTTCCTTTCT	0.617000													5	76					0	0	0.001168	0	0
BST2	684	broad.mit.edu	37	19	17516356	17516356	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:17516356C>G	ENST00000252593.6	-	1	101	c.29G>C	c.(28-30)aGa>aCa	p.R10T		NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	10					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CATGGGCACTCTGCAATAGTC	0.527000													9	86					0	0	0.004482	0	0
USP44	84101	broad.mit.edu	37	12	95927967	95927967	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:95927967G>C	ENST00000258499.3	-	2	354	c.66C>G	c.(64-66)ctC>ctG	p.L22L	USP44_ENST00000537435.2_Silent_p.L22L|USP44_ENST00000393091.2_Silent_p.L22L|USP44_ENST00000552440.1_Silent_p.L22L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	22					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTGAGGGTTGAGGCTGGAAT	0.478000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	124					0	0	0.004482	0	0
NTF3	4908	broad.mit.edu	37	12	5603633	5603633	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:5603633G>A	ENST00000423158.3	+	2	504	c.292G>A	c.(292-294)Gtg>Atg	p.V98M	NTF3_ENST00000331010.6_Missense_Mutation_p.V85M|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	85					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						ATTCCAGCCGGTGATTGCAAT	0.622000													13	40					0	0	0.004007	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035186	110035186	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:110035186C>G	ENST00000453089.2	+	5	2164	c.1283C>G	c.(1282-1284)gCa>gGa	p.A428G	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A460G|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A459G			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	459							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCCAAAACTGCAAACGAAGGA	0.498000													9	36					0	0	0.008291	0	0
VGLL1	51442	broad.mit.edu	37	X	135618272	135618272	+	Silent	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:135618272C>A	ENST00000370634.3	+	2	263	c.93C>A	c.(91-93)acC>acA	p.T31T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TCCTTTTCACCTACTTCCAAG	0.507000													16	85					3.41278e-10	4.7633e-10	0.004990	1	0
DNM1	1759	broad.mit.edu	37	9	130982498	130982498	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:130982498G>T	ENST00000341179.7	+	6	819	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	DNM1_ENST00000486160.1_Missense_Mutation_p.D243Y|DNM1_ENST00000393594.3_Missense_Mutation_p.D243Y|DNM1_ENST00000372923.3_Missense_Mutation_p.D243Y|DNM1_ENST00000475805.1_Missense_Mutation_p.D243Y	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	243					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GAAGGACATTGATGGCAAGAA	0.562000													20	86					8.04996e-18	1.14187e-17	0.001882	1	0
MYOF	26509	broad.mit.edu	37	10	95162073	95162073	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:95162073G>C	ENST00000371501.4	-	11	1028	c.906C>G	c.(904-906)ctC>ctG	p.L302L	MYOF_ENST00000358334.5_Silent_p.L302L|MYOF_ENST00000371489.1_Silent_p.L302L|MYOF_ENST00000359263.4_Silent_p.L302L|MYOF_ENST00000371502.4_Silent_p.L302L			Q9NZM1	MYOF_HUMAN	myoferlin	302					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCGGGTCATTGAGAAGAAGCC	0.438000													3	70					0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158590153	158590153	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:158590153A>T	ENST00000368148.3	-	44	6404	c.6224T>A	c.(6223-6225)cTg>cAg	p.L2075Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.L2072Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2075					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATTTCATTCAGGGAGACACA	0.488000													9	45					0	0	0.004482	0	0
STAB2	55576	broad.mit.edu	37	12	104147067	104147067	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:104147067G>C	ENST00000388887.2	+	61	6854	c.6650G>C	c.(6649-6651)aGa>aCa	p.R2217T	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2217	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GACAAAGCCAGAGAGGCCTGT	0.547000													4	49					0	0	0.000602	0	0
CHERP	10523	broad.mit.edu	37	19	16630439	16630439	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:16630439C>T	ENST00000546361.2	-	16	2701	c.2550G>A	c.(2548-2550)gtG>gtA	p.V850V	CHERP_ENST00000198939.6_Silent_p.V861V|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	850	G-patch.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TACCCATCTTCACCAGCATCT	0.592000													7	175					0	0	0.001984	0	0
A2ML1	144568	broad.mit.edu	37	12	9001367	9001367	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:9001367G>C	ENST00000299698.7	+	16	2065	c.1885G>C	c.(1885-1887)Gag>Cag	p.E629Q	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.E138Q	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	473						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCAAGTGGCTGAGTATGATCA	0.502000													5	144					0	0	0.001168	0	0
PEX13	5194	broad.mit.edu	37	2	61258828	61258828	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:61258828G>A	ENST00000295030.4	+	2	405	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	123					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TCAGCAAGCTGAAGAAAGCAG	0.438000													10	103					0	0	0.000978	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135113087	135113087	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:135113087C>T	ENST00000368563.2	-	4	656	c.300G>A	c.(298-300)caG>caA	p.Q100Q	TUBGCP2_ENST00000543663.1_Silent_p.Q100Q|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000252936.3_Silent_p.Q100Q|TUBGCP2_ENST00000417178.2_5'UTR	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	100					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTTTTGCATTCTGTTGTAAGT	0.547000													7	60					0	0	0.003080	0	0
NOS2	4843	broad.mit.edu	37	17	26107873	26107873	+	Silent	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:26107873G>T	ENST00000313735.6	-	9	1157	c.924C>A	c.(922-924)gtC>gtA	p.V308V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	308					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGCCTGCAGGACCAGGGGGA	0.612000													5	47					1.024e-07	1.39929e-07	0.000602	1	0
GPC3	2719	broad.mit.edu	37	X	133119399	133119399	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:133119399G>A	ENST00000370818.3	-	1	523	c.78C>T	c.(76-78)ccC>ccT	p.P26P	GPC3_ENST00000543339.1_Silent_p.P26P|GPC3_ENST00000394299.2_Silent_p.P26P	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	26						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCGGCGGCGGGGGCTGCGCCT	0.687000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				5	6					0	0	0.000602	0	0
ATP2C1	27032	broad.mit.edu	37	3	130714889	130714889	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:130714889C>T	ENST00000510168.1	+	23	2610	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	ATP2C1_ENST00000504381.1_Missense_Mutation_p.S632F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S687F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S671F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S671F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S671F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S682F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S687F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S687F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S671F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S721F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S687F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S687F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	687					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATTTCAGGTCTGCAATCGAA	0.294000									Hailey-Hailey disease				9	104					0	0	0.006214	0	0
ZNF385A	25946	broad.mit.edu	37	12	54765456	54765456	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:54765456C>T	ENST00000546970.1	-	6	694	c.405G>A	c.(403-405)gaG>gaA	p.E135E	ZNF385A_ENST00000551109.1_Silent_p.E135E|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000338010.5_Silent_p.E155E|ZNF385A_ENST00000394313.2_Silent_p.E135E			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.E135E(2)|p.E135D(2)|p.E155E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGGCTGTTTCTCTGGGGATC	0.602000													8	63					0	0	0.004482	0	0
MYO1D	4642	broad.mit.edu	37	17	31099833	31099833	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:31099833C>T	ENST00000318217.5	-	5	896	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	MYO1D_ENST00000579584.1_Missense_Mutation_p.E198K|MYO1D_ENST00000583621.1_Missense_Mutation_p.E198K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E110K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	198	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAGCTTCTTTCTCCTGGCTGT	0.378000													4	172					0	0	0.001168	0	0
IPO13	9670	broad.mit.edu	37	1	44424492	44424492	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:44424492C>G	ENST00000372343.3	+	11	2621	c.1959C>G	c.(1957-1959)atC>atG	p.I653M		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	653					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACTGGACATCAGTCATCATG	0.552000													7	81					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82546170	82546170	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:82546170A>G	ENST00000423517.2	-	7	11469	c.11132T>C	c.(11131-11133)aTg>aCg	p.M3711T	PCLO_ENST00000437081.1_Missense_Mutation_p.M431T|PCLO_ENST00000333891.8_Missense_Mutation_p.M3711T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3642					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGGATGTCATGGTTTGAGA	0.343000													13	76					0	0	0.002450	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005950	30005950	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:30005950C>A	ENST00000279392.3	-	4	1346	c.516G>T	c.(514-516)agG>agT	p.R172S	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	172	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGGTTTCTTCCTAGTCTTCC	0.572000													24	218					7.87624e-14	1.1142e-13	0.002780	1	0
DLG4	1742	broad.mit.edu	37	17	7094030	7094030	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:7094030G>C	ENST00000399510.2	-	22	3153	c.2301C>G	c.(2299-2301)ctC>ctG	p.L767L	DLG4_ENST00000302955.6_Silent_p.L721L|DLG4_ENST00000399506.2_Silent_p.L724L	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	724					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCAGGAATCAGAGTCTCTCTC	0.622000													5	50					0	0	0.001168	0	0
PENK	5179	broad.mit.edu	37	8	57354182	57354182	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:57354182G>A	ENST00000314922.3	-	2	529	c.453C>T	c.(451-453)gcC>gcT	p.A151A	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.A151A	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	151					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGAGGAATTGGCCAGCGAGT	0.537000													12	79					0	0	0.001368	0	0
MEAF6	64769	broad.mit.edu	37	1	37975083	37975083	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:37975083G>A	ENST00000373075.2	-	3	283	c.267C>T	c.(265-267)ttC>ttT	p.F89F	MEAF6_ENST00000373074.1_Silent_p.F67F|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000296214.5_Silent_p.F89F|MEAF6_ENST00000448519.2_Silent_p.F89F|MEAF6_ENST00000373073.4_Silent_p.F89F	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	89					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						AGGATTTACTGAAGAGCCGCT	0.438000													6	179					0	0	0.001984	0	0
CREBBP	1387	broad.mit.edu	37	16	3781236	3781236	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:3781236C>G	ENST00000262367.5	-	30	5938	c.5129G>C	c.(5128-5130)tGc>tCc	p.C1710S	CREBBP_ENST00000382070.3_Missense_Mutation_p.C1672S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1710	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGTGCTTGCACTCGTTGCA	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	44					0	0	0.000602	0	0
C11orf84	144097	broad.mit.edu	37	11	63585545	63585545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:63585545G>A	ENST00000294244.4	+	2	695	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	132										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGGAGGCCTGGAGTGAAGGGG	0.622000													4	67					0	0	0.000602	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562015	32562015	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:32562015C>T	ENST00000345122.3	+	2	2455	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L714F|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L714F|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L714F	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	714					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTACCAATTCTCAGGCACCA	0.368000													12	39					0	0	0.002450	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759087	176759087	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:176759087C>T	ENST00000367662.3	+	18	6022	c.4858C>T	c.(4858-4860)Ctc>Ttc	p.L1620F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1620	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGTGTGTGCTCAACTGTAA	0.463000													9	75					0	0	0.006214	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127773	150127773	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:150127773G>A	ENST00000361875.2	+	1	1652	c.636G>A	c.(634-636)gcG>gcA	p.A212A	TSC22D2_ENST00000361136.2_Silent_p.A212A	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	212							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCAGACTGCGGAGCGGGACA	0.607000													11	90					0	0	0.000978	0	0
SYNE4	163183	broad.mit.edu	37	19	36494303	36494303	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:36494303T>A	ENST00000324444.3	-	8	1262	c.1151A>T	c.(1150-1152)cAt>cTt	p.H384L	SYNE4_ENST00000340477.5_Missense_Mutation_p.H271L	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		TATTCGGGCATGAGAGCAGCA	0.557000													8	24					0	0	0.004482	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796789	62796789	+	RNA	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:62796789G>C	ENST00000582986.1	-	0	1131					NR_024386.1																						TTCGTCCTGGGAGGAGGCGCG	0.642000													3	27					0	0	0.004672	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905988	144905988	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:144905988G>T	ENST00000370490.1	+	1	6300	c.2045G>T	c.(2044-2046)gGc>gTc	p.G682V	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G682V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G682V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G682V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G682V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	682						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACAGACGGCCATGTCTAC	0.488000													6	68					8.12818e-05	0.000107688	0.001984	1	0
RSPO1	284654	broad.mit.edu	37	1	38079871	38079871	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:38079871C>T	ENST00000356545.2	-	6	1208	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RSPO1_ENST00000401068.1_Missense_Mutation_p.E141K|RSPO1_ENST00000373059.1_Missense_Mutation_p.E114K|RSPO1_ENST00000401070.1_Missense_Mutation_p.E141K|RSPO1_ENST00000401071.2_Missense_Mutation_p.E141K|RSPO1_ENST00000401069.1_Missense_Mutation_p.E141K	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	141					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACTGCACTCCATGGTGCCA	0.617000													4	16					0	0	0.000248	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002532	69002532	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:69002532G>A	ENST00000295381.3	+	2	660	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E81K|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.E55K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E74K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E74K|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E81K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E74K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	81	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTACAAGGATGAAGAGGACAC	0.562000													5	114					0	0	0.000602	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539583	84539583	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:84539583A>T	ENST00000286744.5	+	9	1056	c.832A>T	c.(832-834)Aaa>Taa	p.K278*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.K278*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	278						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAAGGAAGCAAAGGAGAACA	0.348000													3	23					0	0	0.000248	0	0
G6PC2	57818	broad.mit.edu	37	2	169763265	169763265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:169763265C>T	ENST00000375363.3	+	4	624	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000421979.1_Intron|G6PC2_ENST00000461586.1_Intron|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	178					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TTTTCCTCATCAAGTTATTCT	0.368000													10	66					0	0	0.006214	0	0
DROSHA	29102	broad.mit.edu	37	5	31526746	31526746	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:31526746G>C	ENST00000511367.2	-	4	538	c.294C>G	c.(292-294)atC>atG	p.I98M	DROSHA_ENST00000344624.3_Missense_Mutation_p.I98M|DROSHA_ENST00000513349.1_Missense_Mutation_p.I98M|DROSHA_ENST00000442743.1_Missense_Mutation_p.I98M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	98	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAGGCGGCCTGATTGGGCAGG	0.602000													3	33					0	0	0.004672	0	0
ADAM29	11086	broad.mit.edu	37	4	175898164	175898164	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr4:175898164G>C	ENST00000359240.3	+	5	2158	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N	ADAM29_ENST00000445694.1_Missense_Mutation_p.K496N|ADAM29_ENST00000404450.4_Missense_Mutation_p.K496N|ADAM29_ENST00000514159.1_Missense_Mutation_p.K496N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	496	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCTATGAAAAGAGCTGTCATG	0.458000													3	90					0	0	0.000248	0	0
TULP1	7287	broad.mit.edu	37	6	35477522	35477522	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:35477522C>T	ENST00000229771.6	-	7	686	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	TULP1_ENST00000322263.4_Missense_Mutation_p.G150R	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	203					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCGGCCTCCCCAGACCCTGCA	0.597000													6	60					0	0	0.001984	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622990	65622990	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:65622990C>T	ENST00000327987.4	-	10	1902	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	551	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGCCGCCCTCGTGCTGGGCC	0.657000													7	28					0	0	0.001984	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107210985	107210985	+	RNA	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:107210985G>C	ENST00000390636.2	-	0	383																											TTCATTTGCAGATACGCCGTG	0.512000													3	99					0	0	0.004672	0	0
PAK2	5062	broad.mit.edu	37	3	196534778	196534778	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:196534778G>C	ENST00000327134.3	+	7	1024	c.702G>C	c.(700-702)gaG>gaC	p.E234D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	234					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGATTATGGAGAAATTAAGTA	0.353000													5	53					0	0	0.000602	0	0
MORC4	79710	broad.mit.edu	37	X	106186010	106186010	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:106186010G>C	ENST00000355610.4	-	15	2385	c.2111C>G	c.(2110-2112)tCa>tGa	p.S704*	MORC4_ENST00000255495.7_Nonsense_Mutation_p.S704*|MORC4_ENST00000535534.1_Nonsense_Mutation_p.S452*	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	704							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGGAGCTCCTGAATCTCTAAC	0.463000													5	127					0	0	0.000602	0	0
HECTD1	25831	broad.mit.edu	37	14	31602531	31602531	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:31602531G>A	ENST00000399332.1	-	24	4323	c.3835C>T	c.(3835-3837)Cgt>Tgt	p.R1279C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1279C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1279	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGATAACACGAGCTCCTGGA	0.507000													4	33					0	0	0.000602	0	0
BEND3	57673	broad.mit.edu	37	6	107419877	107419877	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:107419877C>T	ENST00000429433.2	-	4	767	c.118G>A	c.(118-120)Gag>Aag	p.E40K	BEND3_ENST00000369042.1_Missense_Mutation_p.E40K	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	40										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGTGCTTCTCAGAAGTCCTG	0.527000													7	87					0	0	0.004482	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718193	50718193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:50718193C>A	ENST00000449103.1	-	27	4395	c.4255G>T	c.(4255-4257)Gag>Tag	p.E1419*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.E1419*			O15031	PLXB2_HUMAN	plexin B2	1419					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACAGGGGCTCCCCGGCACTG	0.637000													11	79					1.61879e-10	2.27153e-10	0.001368	1	0
TENM4	26011	broad.mit.edu	37	11	78369787	78369787	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:78369787G>A	ENST00000278550.7	-	34	8088	c.7626C>T	c.(7624-7626)ctC>ctT	p.L2542L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGGAGCCATAGAGCTGGTCAA	0.532000													7	39					0	0	0.001984	0	0
C16orf93	90835	broad.mit.edu	37	16	30771729	30771729	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:30771729C>T	ENST00000543610.1	-	4	1306	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000545825.1_Silent_p.L115L|C16orf93_ENST00000541260.1_Silent_p.L115L	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	115										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGGCGTCCCTCAGGCTCTGCT	0.622000													7	58					0	0	0.001984	0	0
CLEC9A	283420	broad.mit.edu	37	12	10206897	10206897	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:10206897C>T	ENST00000355819.1	+	5	732	c.119C>T	c.(118-120)tCa>tTa	p.S40L		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	40					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATGGTGATTTCATGTGTTTTC	0.348000													6	34					0	0	0.004482	0	0
CDC20	991	broad.mit.edu	37	1	43824905	43824905	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:43824905G>C	ENST00000372462.1	+	1	222	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	CDC20_ENST00000310955.6_Missense_Mutation_p.E7Q			Q12834	CDC20_HUMAN	cell division cycle 20	7					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCGCGTTCGAGAGTGACCT	0.682000													3	85					0	0	0.004672	0	0
FGD4	121512	broad.mit.edu	37	12	32760963	32760963	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:32760963G>C	ENST00000427716.2	+	8	1490	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	FGD4_ENST00000266482.3_Missense_Mutation_p.E108Q|FGD4_ENST00000525053.1_Missense_Mutation_p.E468Q|FGD4_ENST00000381025.3_Missense_Mutation_p.E108Q|FGD4_ENST00000531134.1_Missense_Mutation_p.E441Q|FGD4_ENST00000534526.2_Missense_Mutation_p.E493Q|FGD4_ENST00000546442.1_Missense_Mutation_p.E263Q	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	356	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCCCCGGTATGAGATGCTCCT	0.398000													9	79					0	0	0.006214	0	0
PDE11A	50940	broad.mit.edu	37	2	178969143	178969143	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:178969143G>A	ENST00000358450.4	-	2	146	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCCACTGTGTGGCACTGAGCA	0.418000									Primary Pigmented Nodular Adrenocortical Disease, Familial				4	58					0	0	0.000248	0	0
PDCD7	10081	broad.mit.edu	37	15	65421447	65421447	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:65421447T>A	ENST00000204549.4	-	2	986	c.932A>T	c.(931-933)gAt>gTt	p.D311V		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	311					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCTTTTGGTATCTGCTTGTTT	0.463000													37	226					0	0	0.006230	0	0
ITGAL	3683	broad.mit.edu	37	16	30518166	30518166	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:30518166G>C	ENST00000356798.6	+	21	2677	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E749Q	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	833					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCGCAAGGTGGAGATGCTGAA	0.612000													5	106					0	0	0.000602	0	0
ZNF592	9640	broad.mit.edu	37	15	85326841	85326841	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:85326841C>G	ENST00000299927.3	+	1	957	c.935C>G	c.(934-936)tCa>tGa	p.S312*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S312*			Q92610	ZN592_HUMAN	zinc finger protein 592	312					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGGATCTCTCAGGGCCCACT	0.537000													5	90					0	0	0.001168	0	0
TXNIP	10628	broad.mit.edu	37	1	145440064	145440064	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:145440064G>T	ENST00000369317.4	+	4	832	c.498G>T	c.(496-498)aaG>aaT	p.K166N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	166					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAAAGAAAAGAAAGTTTCCT	0.418000													9	250					2.17888e-05	2.90888e-05	0.006214	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37454039	37454039	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:37454039G>A	ENST00000374660.1	+	18	1951	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E618K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTCCCATCAGAATCCAAACA	0.284000													12	54					0	0	0.003163	0	0
GAN	8139	broad.mit.edu	37	16	81390414	81390414	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:81390414G>T	ENST00000248272.3	+	4	820	c.658G>T	c.(658-660)Gct>Tct	p.A220S		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	220	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGTTATGTCAGCTCTGTGGGT	0.413000													10	70					3.86212e-05	5.14292e-05	0.008291	1	0
MICALL1	85377	broad.mit.edu	37	22	38320698	38320698	+	Silent	SNP	G	G	A	rs147560297		TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:38320698G>A	ENST00000215957.6	+	7	1182	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	352	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCCCAAGCCGAGGGGGACAC	0.642000													11	55					0	0	0.001855	0	0
GGA2	23062	broad.mit.edu	37	16	23498078	23498078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:23498078C>A	ENST00000309859.4	-	7	695	c.613G>T	c.(613-615)Gag>Tag	p.E205*	GGA2_ENST00000567468.1_Nonsense_Mutation_p.E205*	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	205	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAAGGTCCTCGGGGTGGTTG	0.507000													26	163					7.07758e-08	9.69684e-08	0.004656	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730115	53730115	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:53730115C>T	ENST00000262135.4	-	3	271	c.178G>A	c.(178-180)Gag>Aag	p.E60K	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E60K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E60K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	60					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAATGTTCTCATCATGCAAA	0.388000													7	149					0	0	0.003080	0	0
DICER1	23405	broad.mit.edu	37	14	95598909	95598909	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:95598909G>C	ENST00000526495.1	-	5	541	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	DICER1_ENST00000527414.1_Missense_Mutation_p.Q84E|DICER1_ENST00000393063.1_Missense_Mutation_p.Q84E|DICER1_ENST00000343455.3_Missense_Mutation_p.Q84E|DICER1_ENST00000541352.1_Missense_Mutation_p.Q84E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	84	Helicase ATP-binding.			VLLTKELSYQIRGDFS -> STTLLKSCLYLDLGETSA (in Ref. 1; BAA78691).	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.Q84E(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCCCTGATCTGATAGGACAGC	0.408000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	85					0	0	0.000248	0	0
OR5R1	219479	broad.mit.edu	37	11	56185023	56185023	+	Missense_Mutation	SNP	C	C	A	rs149197985	byFrequency	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:56185023C>A	ENST00000312253.1	-	1	685	c.686G>T	c.(685-687)cGc>cTc	p.R229L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTGAGTAGAGCGGATCCTTAG	0.448000													6	68					0.00198382	0.00256325	0.001984	1	0
USF1	7391	broad.mit.edu	37	1	161011920	161011920	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:161011920G>C	ENST00000368021.3	-	5	466	c.262C>G	c.(262-264)Caa>Gaa	p.Q88E	USF1_ENST00000435396.1_Missense_Mutation_p.Q29E|USF1_ENST00000368019.1_Missense_Mutation_p.Q88E|USF1_ENST00000368020.1_Missense_Mutation_p.Q88E	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	88					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTCATGGATTGAGTGGCAGGG	0.537000													9	50					0	0	0.004482	0	0
MAU2	23383	broad.mit.edu	37	19	19453632	19453632	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:19453632G>C	ENST00000392313.5	+	9	976	c.930G>C	c.(928-930)caG>caC	p.Q310H	MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Missense_Mutation_p.Q310H	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	310					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGAAGGCGCAGAAGTACACGG	0.632000											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	208					0	0	0.003080	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123528	12123528	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:12123528G>T	ENST00000379388.2	+	4	3832	c.3500G>T	c.(3499-3501)aGa>aTa	p.R1167I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1167					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGCTGAATAGAACGGGGAAG	0.522000													4	41					0.00024832	0.00032816	0.000248	1	0
GRIK3	2899	broad.mit.edu	37	1	37307505	37307505	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:37307505C>T	ENST00000373091.3	-	10	1378	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	GRIK3_ENST00000373093.4_Silent_p.R454R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	454					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGTATAGCGTCCTGTCTGATT	0.577000													8	95					0	0	0.004482	0	0
LRFN5	145581	broad.mit.edu	37	14	42356638	42356638	+	Silent	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:42356638T>A	ENST00000554171.1	+	5	3242	c.810T>A	c.(808-810)acT>acA	p.T270T	LRFN5_ENST00000298119.4_Silent_p.T270T|LRFN5_ENST00000554120.1_Silent_p.T270T			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	270	LRRCT.					integral to membrane		p.T270T(1)|p.G271C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CACTTTTAACTGGCCGCTACT	0.468000										HNSCC(30;0.082)			18	82					0	0	0.007413	0	0
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:51749089C>G	ENST00000412531.3	+	2	317	c.245C>G	c.(244-246)gCc>gGc	p.A82G	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	82					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.A82G(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343000													3	73					0	0	0.000602	0	0
TMEM169	92691	broad.mit.edu	37	2	216964811	216964811	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:216964811G>C	ENST00000454545.1	+	4	766	c.440G>C	c.(439-441)aGa>aCa	p.R147T	TMEM169_ENST00000295658.4_Missense_Mutation_p.R147T|TMEM169_ENST00000406027.2_Missense_Mutation_p.R147T|TMEM169_ENST00000437356.2_Missense_Mutation_p.R147T	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	147						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGAAGGAAGAATGGCCTGC	0.517000													5	50					0	0	0.000602	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218015	7218015	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:7218015T>G	ENST00000361972.4	-	17	2011	c.1921A>C	c.(1921-1923)Agt>Cgt	p.S641R	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S641R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	641					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCACAGGACTAAACAAATTT	0.433000													20	107					0	0	0.001523	0	0
CTGF	1490	broad.mit.edu	37	6	132270425	132270425	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:132270425C>G	ENST00000367976.3	-	5	1229	c.1029G>C	c.(1027-1029)aaG>aaC	p.K343N		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	343	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCCGTACATCTTCCTGTAGT	0.423000													4	86					0	0	0.000602	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215870	130215870	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:130215870C>G	ENST00000276211.5	+	2	576	c.231C>G	c.(229-231)ctC>ctG	p.L77L	ARHGAP36_ENST00000370922.1_Silent_p.L65L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	77					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GACATTTCCTCTCCGAATTCA	0.577000													3	109					0	0	0.000248	0	0
MCM5	4174	broad.mit.edu	37	22	35811832	35811832	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:35811832C>G	ENST00000216122.4	+	10	1368	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	MCM5_ENST00000382011.5_Missense_Mutation_p.S362C|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	405	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTATACACGTCTGGGAAAGGC	0.572000													18	129					0	0	0.004990	0	0
TEX37	200523	broad.mit.edu	37	2	88828655	88828655	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:88828655C>T	ENST00000303254.3	+	4	348	c.206C>T	c.(205-207)cCt>cTt	p.P69L		NM_152670.2	NP_689883.1			testis expressed 37									p.P69H(1)									GATGGGTACCCTGCTTTCAAA	0.547000													4	50					0	0	0.000602	0	0
GRHL3	57822	broad.mit.edu	37	1	24663238	24663238	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:24663238C>T	ENST00000361548.4	+	4	763	c.533C>T	c.(532-534)tCc>tTc	p.S178F	GRHL3_ENST00000356046.2_Missense_Mutation_p.S132F|GRHL3_ENST00000350501.5_Missense_Mutation_p.S178F|GRHL3_ENST00000342072.4_Missense_Mutation_p.S85F|GRHL3_ENST00000236255.4_Missense_Mutation_p.S183F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	178					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCCCTCAACTCCTTGTTTGAG	0.607000													13	83					0	0	0.003163	0	0
SENP7	57337	broad.mit.edu	37	3	101080669	101080669	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:101080669C>G	ENST00000394095.2	-	11	1566	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	SENP7_ENST00000358203.3_Missense_Mutation_p.E341Q|SENP7_ENST00000348610.3_Missense_Mutation_p.E472Q|SENP7_ENST00000394091.1_Missense_Mutation_p.E341Q|SENP7_ENST00000314261.7_Missense_Mutation_p.E439Q|SENP7_ENST00000394094.2_Missense_Mutation_p.E440Q	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	505					proteolysis	nucleus	cysteine-type peptidase activity	p.E505*(1)|p.E439*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAATGTTCTCCATGACAGGA	0.294000													8	49					0	0	0.003080	0	0
GALNT5	11227	broad.mit.edu	37	2	158140947	158140947	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:158140947C>T	ENST00000259056.4	+	2	2093	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	536	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TGGTAGATGACTTCAGCACCA	0.438000													5	16					0	0	0.001168	0	0
TPRA1	131601	broad.mit.edu	37	3	127294632	127294632	+	Silent	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:127294632G>T	ENST00000355552.3	-	8	1006	c.630C>A	c.(628-630)atC>atA	p.I210I	TPRA1_ENST00000489960.1_Silent_p.I210I|TPRA1_ENST00000450633.2_Silent_p.I210I|TPRA1_ENST00000296210.7_Intron	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	210					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCTTGGGAAGGATGACCACCA	0.647000													13	51					4.36969e-10	6.08261e-10	0.001855	1	0
CROT	54677	broad.mit.edu	37	7	86978488	86978488	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:86978488A>C	ENST00000331536.3	+	3	289	c.104A>C	c.(103-105)tAc>tCc	p.Y35S	CROT_ENST00000442291.1_Missense_Mutation_p.Y35S|CROT_ENST00000412227.2_Missense_Mutation_p.Y35S|CROT_ENST00000419147.2_Missense_Mutation_p.Y35S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	35					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTAAAAAAATACCTTGAATCA	0.333000													8	33					0	0	0.003080	0	0
DTNB	1838	broad.mit.edu	37	2	25705667	25705667	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:25705667C>G	ENST00000406818.3	-	10	1326	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N	DTNB_ENST00000288642.8_Missense_Mutation_p.K359N|DTNB_ENST00000407186.1_Missense_Mutation_p.K359N|DTNB_ENST00000545439.1_Missense_Mutation_p.K155N|DTNB_ENST00000496972.2_Missense_Mutation_p.K302N|DTNB_ENST00000404103.3_Missense_Mutation_p.K359N|DTNB_ENST00000405222.1_Missense_Mutation_p.K359N|DTNB_ENST00000407661.3_Missense_Mutation_p.K359N|DTNB_ENST00000407038.3_Missense_Mutation_p.K359N	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	359						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACGTACCTCTTGGTGGGAG	0.498000													9	36					0	0	0.004482	0	0
EFR3A	23167	broad.mit.edu	37	8	132996518	132996518	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:132996518G>T	ENST00000254624.5	+	15	1933	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	EFR3A_ENST00000519656.1_Missense_Mutation_p.D534Y|EFR3A_ENST00000334503.4_Missense_Mutation_p.D570Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	570						plasma membrane	binding	p.D570H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGTAGTTATTGATCTCATTCG	0.358000													19	89					6.49762e-13	9.16691e-13	0.006122	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433779	73433779	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:73433779G>A	ENST00000263666.4	-	10	2052	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	PDZRN3_ENST00000535920.1_Silent_p.F368F|PDZRN3_ENST00000462146.2_Silent_p.F303F|PDZRN3_ENST00000479530.1_Silent_p.F363F|PDZRN3_ENST00000466780.1_Silent_p.F303F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	646							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGAGCTCGCGGAAGCGCTCGC	0.657000													21	59					0	0	0.001523	0	0
MED1	5469	broad.mit.edu	37	17	37571363	37571363	+	Nonsense_Mutation	SNP	G	G	C	rs1139821		TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:37571363G>C	ENST00000300651.6	-	16	1638	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*	MED1_ENST00000394287.3_Nonsense_Mutation_p.S472*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	472	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.			DS -> GL (in Ref. 1; CAA73867).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CACATGTGTTGAGTCCTGCAC	0.418000										HNSCC(31;0.082)			13	230					0	0	0.002450	0	0
RALGAPB	57148	broad.mit.edu	37	20	37202893	37202893	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:37202893A>C	ENST00000262879.6	+	29	4527	c.4243A>C	c.(4243-4245)Atg>Ctg	p.M1415L	RALGAPB_ENST00000397038.1_Missense_Mutation_p.M1194L|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.M1412L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.M1415L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1415					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAAATTTAATATGGTCATCCC	0.383000													4	84					0	0	0.001168	0	0
DSG1	1828	broad.mit.edu	37	18	28935210	28935210	+	Silent	SNP	T	T	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr18:28935210T>C	ENST00000257192.4	+	15	3263	c.3051T>C	c.(3049-3051)agT>agC	p.S1017S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S376S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1017	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACATGAGGAGTTCCTCTGACC	0.547000													7	30					0	0	0.003080	0	0
GPSM2	29899	broad.mit.edu	37	1	109439567	109439567	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:109439567C>G	ENST00000406462.1	+	4	911	c.138C>G	c.(136-138)ttC>ttG	p.F46L	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.F46L			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	46					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GCGTGTCATTCTTTGAAGCTG	0.443000													8	113					0	0	0.006214	0	0
ABCF3	55324	broad.mit.edu	37	3	183909032	183909032	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:183909032C>A	ENST00000429586.2	+	16	1743	c.1558C>A	c.(1558-1560)Cgc>Agc	p.R520S	ABCF3_ENST00000292808.5_Missense_Mutation_p.R514S|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	520	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCGAGTCTCGCATCTGTGT	0.537000													42	104					6.61955e-31	9.41527e-31	0.003610	1	0
GALNT11	63917	broad.mit.edu	37	7	151791494	151791494	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:151791494G>A	ENST00000434507.1	+	4	619	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	GALNT11_ENST00000430044.2_Missense_Mutation_p.R61Q|GALNT11_ENST00000415421.1_Missense_Mutation_p.R61Q|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Missense_Mutation_p.R61Q|GALNT11_ENST00000422997.2_Missense_Mutation_p.R61Q			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	61						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CGTTTCACTCGAGGCCCAAGT	0.483000													6	66					0	0	0.001168	0	0
DHPS	1725	broad.mit.edu	37	19	12791023	12791023	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:12791023G>C	ENST00000210060.7	-	2	459	c.324C>G	c.(322-324)atC>atG	p.I108M	DHPS_ENST00000594424.1_Missense_Mutation_p.I66M|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Missense_Mutation_p.I108M	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	108					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TGCCTGAACTGATGAGGTTGG	0.577000													4	247					0	0	0.000248	0	0
FUT11	170384	broad.mit.edu	37	10	75533400	75533400	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:75533400C>T	ENST00000372841.3	+	2	1204	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.F387F	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	387					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TCAACGGCTTCGAGTGTTTCG	0.577000													6	63					0	0	0.001168	0	0
HERPUD1	9709	broad.mit.edu	37	16	56974053	56974053	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:56974053G>C	ENST00000439977.2	+	6	998	c.801G>C	c.(799-801)tgG>tgC	p.W267C	HERPUD1_ENST00000379792.2_Missense_Mutation_p.W242C|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.W266C	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	267						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GGTTGGATTGGACCTATTCAG	0.438000			T	ERG	prostate								5	104					0	0	0.000602	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11855295	11855295	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:11855295G>A	ENST00000396516.2	-	18	2483	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	ZC3H7A_ENST00000355758.4_Silent_p.L762L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	762						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCTTTGTGGGGAGAGGACGGA	0.363000													14	139					0	0	0.003163	0	0
OR4K13	390433	broad.mit.edu	37	14	20502451	20502451	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:20502451G>A	ENST00000315693.2	-	1	468	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTGACTAGATGAGTGCACAAA	0.463000													13	98					0	0	0.001368	0	0
POM121C	100101267	broad.mit.edu	37	7	75070235	75070235	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:75070235C>G	ENST00000453279.2	-	5	1088	c.224G>C	c.(223-225)aGa>aCa	p.R75T	POM121C_ENST00000257665.5_Missense_Mutation_p.R317T	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	317	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGTTACCTTCTTTTATTTTC	0.468000													9	261					0	0	0.006122	0	0
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7306703	7306703	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:7306703C>G	ENST00000573331.1	-	3	136	c.124G>C	c.(124-126)Gac>Cac	p.D42H	TMEM256_ENST00000302422.3_Missense_Mutation_p.D42H|PLSCR3_ENST00000535512.1_5'UTR																							TTGGCCTTGTCAAACAGCTGT	0.522000													7	105					0	0	0.001984	0	0
OTOGL	283310	broad.mit.edu	37	12	80658986	80658986	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:80658986C>G	ENST00000458043.2	+	19	2199	c.2193C>G	c.(2191-2193)ttC>ttG	p.F731L	OTOGL_ENST00000547103.1_Missense_Mutation_p.F731L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGATTTCTTTCTGTGGTGAGT	0.418000													3	14					0	0	0.004672	0	0
CSRNP3	80034	broad.mit.edu	37	2	166532912	166532912	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:166532912G>A	ENST00000314499.7	+	6	875	c.499G>A	c.(499-501)Gag>Aag	p.E167K	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E199K|CSRNP3_ENST00000342316.4_Missense_Mutation_p.E167K	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	167					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GGACAACACAGAGGTAGATGA	0.428000													9	251					0	0	0.000978	0	0
SON	6651	broad.mit.edu	37	21	34923966	34923966	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr21:34923966C>G	ENST00000356577.4	+	3	2904	c.2429C>G	c.(2428-2430)tCc>tGc	p.S810C	SON_ENST00000381679.4_Missense_Mutation_p.S810C|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S810C|SON_ENST00000290239.6_Missense_Mutation_p.S810C	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	810	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCAACCAGCTCCATGGACTCC	0.512000													9	207					0	0	0.006214	0	0
METTL14	57721	broad.mit.edu	37	4	119615608	119615608	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr4:119615608G>C	ENST00000388822.4	+	6	597	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	METTL14_ENST00000506780.1_Missense_Mutation_p.E106Q			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	144						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGACAGATTTGAAGAATATCC	0.343000													6	36					0	0	0.003080	0	0
SPRR3	6707	broad.mit.edu	37	1	152975629	152975629	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:152975629G>T	ENST00000331860.3	+	3	283	c.133G>T	c.(133-135)Gtt>Ttt	p.V45F	SPRR3_ENST00000542696.1_Missense_Mutation_p.V45F|SPRR3_ENST00000295367.4_Missense_Mutation_p.V45F	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	45	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCAAAGGTTCCACAACC	0.557000													7	34					8.12818e-05	0.000107688	0.001984	1	0
ZSCAN29	146050	broad.mit.edu	37	15	43658395	43658395	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:43658395G>C	ENST00000396976.2	-	3	1269	c.1135C>G	c.(1135-1137)Cag>Gag	p.Q379E	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Q378E|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	379					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCAGACTCCTGAGCCACAGCC	0.587000													4	70					0	0	0.000248	0	0
RAPH1	65059	broad.mit.edu	37	2	204304406	204304406	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:204304406G>C	ENST00000319170.5	-	14	3806	c.3507C>G	c.(3505-3507)ctC>ctG	p.L1169L	RAPH1_ENST00000374493.3_Silent_p.L1221L|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1169					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTCCTGTTGAGGTCAGCCA	0.552000													5	53					0	0	0.001168	0	0
STAB1	23166	broad.mit.edu	37	3	52556687	52556687	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:52556687C>G	ENST00000321725.6	+	61	6803	c.6727C>G	c.(6727-6729)Ctc>Gtc	p.L2243V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2243	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATTCCCTCAGCTCTCTGCTGC	0.602000													19	62					0	0	0.007413	0	0
C1orf173	127254	broad.mit.edu	37	1	75055630	75055630	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:75055630G>C	ENST00000326665.5	-	12	2079	c.1861C>G	c.(1861-1863)Cag>Gag	p.Q621E	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q424E|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	621	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCAGTTCCTGAGAAGATGAC	0.433000													5	56					0	0	0.000602	0	0
HERPUD1	9709	broad.mit.edu	37	16	56974113	56974113	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:56974113G>A	ENST00000439977.2	+	6	1058	c.861G>A	c.(859-861)ctG>ctA	p.L287L	HERPUD1_ENST00000379792.2_Silent_p.L262L|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Silent_p.L286L	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	287						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ACTCCTCCCTGAGCAGATTCC	0.413000			T	ERG	prostate								5	103					0	0	0.001168	0	0
NR4A1	3164	broad.mit.edu	37	12	52449825	52449825	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:52449825G>A	ENST00000545748.1	+	4	2045	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	NR4A1_ENST00000360284.3_Silent_p.Q309Q|NR4A1_ENST00000550082.1_Silent_p.Q309Q|NR4A1_ENST00000394824.2_Silent_p.Q296Q|NR4A1_ENST00000394825.1_Silent_p.Q296Q|NR4A1_ENST00000243050.1_Silent_p.Q296Q			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	296					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCACAGTGCAGAAAAACGCCA	0.627000													7	47					0	0	0.001984	0	0
SAT1	6303	broad.mit.edu	37	X	23803528	23803528	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:23803528G>A	ENST00000379270.4	+	4	465	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.V68M	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	96	Acetyl-CoA binding.|N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	GGACTTCTTCGTGATGAGTGA	0.383000													6	121					0	0	0.001168	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960293	73960293	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:73960293G>T	ENST00000373468.1	-	3	4750	c.4099C>A	c.(4099-4101)Ctc>Atc	p.L1367I	KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1367I			Q5QGS0	K2022_HUMAN	KIAA2022	1367					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATATTTTGAGGGTTTTTAAT	0.473000													5	64					0.000602214	0.000787859	0.000602	1	0
PEX6	5190	broad.mit.edu	37	6	42932587	42932587	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:42932587G>C	ENST00000304611.8	-	16	2816	c.2747C>G	c.(2746-2748)tCt>tGt	p.S916C	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	916					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGAGCAGAGAGAGTAGAGGTC	0.552000													7	81					0	0	0.001984	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127774	150127774	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:150127774G>A	ENST00000361875.2	+	1	1653	c.637G>A	c.(637-639)Gag>Aag	p.E213K	TSC22D2_ENST00000361136.2_Missense_Mutation_p.E213K	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	213							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCAGACTGCGGAGCGGGACAG	0.602000													11	88					0	0	0.000978	0	0
INSR	3643	broad.mit.edu	37	19	7132214	7132214	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:7132214T>A	ENST00000341500.5	-	13	2800	c.2761A>T	c.(2761-2763)Aac>Tac	p.N921Y	INSR_ENST00000302850.5_Missense_Mutation_p.N933Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	933	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGAGCCGTTGCCCGCAAGG	0.612000													6	29					0	0	0.001168	0	0
EIF6	3692	broad.mit.edu	37	20	33872280	33872280	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:33872280C>G	ENST00000374450.3	-	2	275	c.11G>C	c.(10-12)cGa>cCa	p.R4P	EIF6_ENST00000374443.3_Missense_Mutation_p.R4P|EIF6_ENST00000374436.3_Missense_Mutation_p.R4P|EIF6_ENST00000462894.1_5'UTR	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	4					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAACGAAGCTCGGACCGCCAT	0.632000													16	106					0	0	0.004990	0	0
LTBP1	4052	broad.mit.edu	37	2	33335736	33335736	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:33335736G>C	ENST00000404816.2	+	4	1304	c.951G>C	c.(949-951)caG>caC	p.Q317H	LTBP1_ENST00000354476.3_Missense_Mutation_p.Q317H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	317					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCCAGCCCAGAAGGGGATTT	0.488000													4	95					0	0	0.000248	0	0
CD163L1	283316	broad.mit.edu	37	12	7556377	7556377	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:7556377C>G	ENST00000313599.3	-	6	1219	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.E398Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.E388Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	388	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACCACTGTTCATGAATTCTC	0.468000													3	84					0	0	0.004672	0	0
GSDMC	56169	broad.mit.edu	37	8	130764991	130764991	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:130764991G>C	ENST00000276708.4	-	7	1678	c.797C>G	c.(796-798)tCt>tGt	p.S266C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	266						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						gagggttggagagatggtatg	0.428000													5	87					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158632572	158632572	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:158632572A>T	ENST00000368148.3	-	17	2564	c.2384T>A	c.(2383-2385)cTg>cAg	p.L795Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.L795Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	795					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCAGCTGCAGATGGAGAAG	0.507000													7	47					0	0	0.001984	0	0
MED1	5469	broad.mit.edu	37	17	37566260	37566260	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:37566260G>A	ENST00000300651.6	-	17	2437	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	738	Interaction with ESR1.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGCTGGAGTGATGTGTGGCG	0.488000										HNSCC(31;0.082)			5	65					0	0	0.000602	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79733151	79733151	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:79733151C>G	ENST00000338008.5	+	3	827	c.647C>G	c.(646-648)tCa>tGa	p.S216*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.S216*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.S216*	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	216					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACAACACTTTCAGATTCCTAT	0.294000													6	18					0	0	0.001168	0	0
ARAP3	64411	broad.mit.edu	37	5	141041628	141041628	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:141041628G>A	ENST00000239440.4	-	20	3060	c.2995C>T	c.(2995-2997)Cgc>Tgc	p.R999C	ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Missense_Mutation_p.R661C|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	999	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCCCTCCAGCGAGGCAGCAAC	0.587000													6	77					0	0	0.003080	0	0
OR2M4	26245	broad.mit.edu	37	1	248402784	248402784	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:248402784T>A	ENST00000306687.1	+	1	554	c.554T>A	c.(553-555)tTa>tAa	p.L185*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGCCCTTTTACCTCTATCC	0.403000													15	88					0	0	0.003163	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102513595	102513595	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:102513595G>A	ENST00000321521.9	+	23	3241	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E890K|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E890K			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	890					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTTTCATGTTGAATTACACTT	0.373000													4	27					0	0	0.000248	0	0
PAK1	5058	broad.mit.edu	37	11	77051807	77051807	+	Splice_Site	SNP	A	A	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:77051807A>C	ENST00000356341.3	-	11	1531	c.998_splice	c.e11-1	p.Y334_splice	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Splice_Site_p.Y334_splice|PAK1_ENST00000530617.1_Splice_Site_p.Y334_splice|PAK1_ENST00000528203.1_Splice_Site_p.Y236_splice	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	334	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCCACGAGGTAACTGCAGGAA	0.463000													15	136					0	0	0.002450	0	0
MYO1C	4641	broad.mit.edu	37	17	1371352	1371352	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:1371352G>A	ENST00000359786.5	-	28	3150	c.2826C>T	c.(2824-2826)ctC>ctT	p.L942L	MYO1C_ENST00000545534.2_Silent_p.L918L|MYO1C_ENST00000438665.2_Silent_p.L923L|MYO1C_ENST00000361007.2_Silent_p.L907L|MYO1C_ENST00000575158.1_Silent_p.L907L	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	942					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGTTGGGCGTGAGCAGCAGCT	0.637000													6	42					0	0	0.001168	0	0
MED12	9968	broad.mit.edu	37	X	70357597	70357597	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:70357597C>T	ENST00000333646.6	+	41	6056	c.5857C>T	c.(5857-5859)Cat>Tat	p.H1953Y	MED12_ENST00000374102.1_Missense_Mutation_p.H1949Y|MED12_ENST00000374080.3_Missense_Mutation_p.H1950Y|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1950	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTATGTTTCTCATGTGGGATT	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	51					0	0	0.001168	0	0
LRP4	4038	broad.mit.edu	37	11	46898190	46898190	+	Splice_Site	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:46898190T>A	ENST00000378623.1	-	25	3607		c.e25-2			NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4						endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTGTAGCCCTGTGGGAAGTC	0.552000													10	62					0	0	0.006214	0	0
PRR5L	79899	broad.mit.edu	37	11	36458958	36458958	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:36458958G>C	ENST00000378867.3	+	7	731	c.376G>C	c.(376-378)Gct>Cct	p.A126P	PRR5L_ENST00000530639.1_Missense_Mutation_p.A126P|PRR5L_ENST00000527487.1_Missense_Mutation_p.A126P|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.A100P	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	126										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TGAGGTTCTGGCTGAAGTCTG	0.478000													19	141					0	0	0.001882	0	0
LGR5	8549	broad.mit.edu	37	12	71978235	71978235	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:71978235C>G	ENST00000266674.5	+	18	2756	c.2445C>G	c.(2443-2445)ctC>ctG	p.L815L	LGR5_ENST00000540815.2_Silent_p.L791L|LGR5_ENST00000536515.1_Silent_p.L743L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	815						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTGCATGTCTCAATCCCCTTC	0.423000													6	63					0	0	0.001168	0	0
HLA-C	3107	broad.mit.edu	37	6	31237136	31237136	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:31237136C>T	ENST00000383329.3	-	7	1107	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	HLA-C_ENST00000376228.5_Missense_Mutation_p.E359K			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	359					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ATGAGAGACTCATCAGAGCCC	0.527000													4	31					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36873842	36873842	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:36873842T>A	ENST00000301807.6	-	21	7347	c.5450A>T	c.(5449-5451)gAg>gTg	p.E1817V	TRANK1_ENST00000429976.2_Missense_Mutation_p.E2367V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1817V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2367					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AATGCAATTCTCCAGAAGCCG	0.448000													11	62					0	0	0.008291	0	0
HSPA4	3308	broad.mit.edu	37	5	132409787	132409787	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:132409787C>T	ENST00000304858.2	+	6	921	c.632C>T	c.(631-633)tCt>tTt	p.S211F		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	211					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATCAAGTTTCTGTATGTGCA	0.338000													3	31					0	0	0.000248	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131874	45131874	+	RNA	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:45131874C>G	ENST00000575173.1	-	0	418																											CATTGTTATTCTTATCCCAGG	0.512000													7	93					0	0	0.001984	0	0
MIS12	79003	broad.mit.edu	37	17	5392495	5392495	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:5392495A>G	ENST00000381165.3	+	3	866	c.313A>G	c.(313-315)Aag>Gag	p.K105E	MIS12_ENST00000573759.1_Missense_Mutation_p.K105E	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	105					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGATAAATGTAAGGAGACACC	0.373000													6	32					0	0	0.001168	0	0
ABCA12	26154	broad.mit.edu	37	2	215865683	215865683	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:215865683G>C	ENST00000272895.7	-	22	3144	c.2925C>G	c.(2923-2925)gtC>gtG	p.V975V	ABCA12_ENST00000389661.4_Silent_p.V657V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	975					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGAAGAAAGACATTTCCAG	0.423000													11	61					0	0	0.008291	0	0
FNDC3B	64778	broad.mit.edu	37	3	172052736	172052736	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:172052736G>A	ENST00000336824.4	+	15	1743	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	FNDC3B_ENST00000415807.2_Silent_p.L548L|FNDC3B_ENST00000416957.1_Silent_p.L548L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	548	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGTTCTAGCTGACTGCTTCTA	0.423000													10	91					0	0	0.008291	0	0
APOA4	337	broad.mit.edu	37	11	116692408	116692408	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:116692408C>T	ENST00000357780.3	-	3	480	c.366G>A	c.(364-366)caG>caA	p.Q122Q		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ccccgatcttctggctcacct	0.662000													3	11					0	0	0.004672	0	0
TULP1	7287	broad.mit.edu	37	6	35477054	35477054	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:35477054C>T	ENST00000229771.6	-	8	833	c.754G>A	c.(754-756)Gag>Aag	p.E252K	TULP1_ENST00000322263.4_Missense_Mutation_p.E199K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	252	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCTCCTCCTCCTCTTCTTCC	0.562000													9	225					0	0	0.008291	0	0
ICAM1	3383	broad.mit.edu	37	19	10395858	10395858	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:10395858C>T	ENST00000264832.3	+	7	1819	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	ICAM1_ENST00000423829.2_Silent_p.L276L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	498					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTGCAGGCCTCAGCACGTACC	0.547000													5	35					0	0	0.000602	0	0
ATP10B	23120	broad.mit.edu	37	5	160047603	160047603	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:160047603C>G	ENST00000327245.5	-	15	3013	c.2167G>C	c.(2167-2169)Gat>Cat	p.D723H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	723					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGCCTCATCAGGGCTCTCA	0.642000													4	36					0	0	0.000248	0	0
HMGCS2	3158	broad.mit.edu	37	1	120298086	120298086	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:120298086G>A	ENST00000369406.3	-	6	1200	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	HMGCS2_ENST00000544913.2_Missense_Mutation_p.S342L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	384					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GTACAGGGATGAGGTGTACAT	0.562000													10	291					0	0	0.006214	0	0
PRKAG2	51422	broad.mit.edu	37	7	151478307	151478307	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:151478307C>G	ENST00000287878.4	-	3	901	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	PRKAG2_ENST00000392801.2_Missense_Mutation_p.E89Q|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	133					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGGGAAGACTCTTTGGAGGAG	0.582000													4	96					0	0	0.000248	0	0
ATP12A	479	broad.mit.edu	37	13	25264599	25264599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr13:25264599C>T	ENST00000218548.6	+	6	1003	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	ATP12A_ENST00000381946.3_Nonsense_Mutation_p.Q224*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	224					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTGTCTTCTCAGGGGTGTCG	0.572000													12	51					0	0	0.001855	0	0
EXOSC4	54512	broad.mit.edu	37	8	145134932	145134932	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:145134932C>T	ENST00000316052.5	+	2	361	c.258C>T	c.(256-258)cgC>cgT	p.R86R	EXOSC4_ENST00000525936.1_Intron	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	86					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGAGCGCAAGCGACGGC	0.627000													14	81					0	0	0.001855	0	0
NBPF12	149013	broad.mit.edu	37	1	146397454	146397454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:146397454G>T	ENST00000442909.2	+	6	1107	c.271G>T	c.(271-273)Gag>Tag	p.E91*	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Nonsense_Mutation_p.E91*					neuroblastoma breakpoint family, member 12											ovary(2)	2						ACAAGCTGAGGAGCTCAGGTG	0.532000													19	166					1.96292e-10	2.74704e-10	0.001523	1	0
HIVEP1	3096	broad.mit.edu	37	6	12124299	12124299	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:12124299G>C	ENST00000379388.2	+	4	4603	c.4271G>C	c.(4270-4272)aGa>aCa	p.R1424T		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1424					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCTTAGAAAGAAGGAGAGGC	0.498000													7	91					0	0	0.001984	0	0
GSE1	23199	broad.mit.edu	37	16	85690992	85690992	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:85690992C>T	ENST00000253458.7	+	8	1598	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	GSE1_ENST00000405402.2_Silent_p.I370I|GSE1_ENST00000393243.1_Silent_p.I401I	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		ACCATGGCATCTTCTCTCTGC	0.667000													3	33					0	0	0.004672	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905125	1905125	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:1905125G>A	ENST00000518288.1	+	30	3966	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E	ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G1244E|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G1269E|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G1240E|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G1206E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1269					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATCTGGTTGGGAGATTCGCTG	0.592000													11	83					0	0	0.000978	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962796	73962796	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:73962796G>C	ENST00000373468.1	-	3	2247	c.1596C>G	c.(1594-1596)acC>acG	p.T532T	KIAA2022_ENST00000055682.5_Silent_p.T532T			Q5QGS0	K2022_HUMAN	KIAA2022	532					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTCCTTACGGGTTACTTTTC	0.418000													7	47					0	0	0.001984	0	0
UBA2	10054	broad.mit.edu	37	19	34955028	34955028	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:34955028C>G	ENST00000439527.2	+	15	1806	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	UBA2_ENST00000246548.4_Missense_Mutation_p.I532M|UBA2_ENST00000592791.1_Missense_Mutation_p.I58M			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	532					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGATCAACATCCTTCATAGGT	0.313000													4	40					0	0	0.000248	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628979	1628979	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:1628979A>T	ENST00000399685.1	-	1	714	c.637T>A	c.(637-639)Tgc>Agc	p.C213S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	213	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gactggcagcaggatgaccca	0.607000													26	159					0	0	0.004656	0	0
KRT27	342574	broad.mit.edu	37	17	38935988	38935988	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:38935988C>G	ENST00000301656.3	-	4	850	c.810G>C	c.(808-810)caG>caC	p.Q270H		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	270	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCCTGCGGTTCTGCTCTGCGA	0.647000													7	15					0	0	0.003080	0	0
ZNF175	7728	broad.mit.edu	37	19	52090721	52090721	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:52090721C>T	ENST00000262259.2	+	5	1495	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	379					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TATCTCTCTTCAGACATCAGA	0.398000													10	59					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78570980	78570980	+	Silent	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:78570980A>G	ENST00000397909.2	+	27	5357	c.5184A>G	c.(5182-5184)tcA>tcG	p.S1728S	NAV3_ENST00000536525.2_Silent_p.S1728S|NAV3_ENST00000228327.6_Silent_p.S1728S|NAV3_ENST00000266692.7_Silent_p.S1551S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1728						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCCTTCATCACATTCTGACA	0.463000										HNSCC(70;0.22)			5	65					0	0	0.000602	0	0
DNAH6	1768	broad.mit.edu	37	2	84806723	84806723	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:84806723G>A	ENST00000389394.3	+	14	2286	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E717K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E717K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	717	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACAAGATGCAGAGTATAAACT	0.353000													3	39					0	0	0.000248	0	0
MIER3	166968	broad.mit.edu	37	5	56224647	56224647	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:56224647C>G	ENST00000381226.3	-	10	901	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	MIER3_ENST00000381213.3_Missense_Mutation_p.E290Q|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Missense_Mutation_p.E228Q|MIER3_ENST00000381199.3_Missense_Mutation_p.E291Q			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	291	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AGTGCATGTTCAAAGCTTCGG	0.328000													6	37					0	0	0.001168	0	0
YWHAQ	10971	broad.mit.edu	37	2	9770412	9770412	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:9770412G>A	ENST00000381844.4	-	1	333	c.170C>T	c.(169-171)tCc>tTc	p.S57F	YWHAQ_ENST00000238081.3_Missense_Mutation_p.S57F			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	57					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCTCCAGGCGGACCTGCGGCC	0.607000													7	63					0	0	0.003080	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222269	91222269	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:91222269C>T	ENST00000371790.4	-	3	367	c.67G>A	c.(67-69)Gga>Aga	p.G23R	SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA			Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCTTCTTTTCCAGGTTGCTCC	0.488000													7	32					0	0	0.001984	0	0
HK2	3099	broad.mit.edu	37	2	75113751	75113751	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:75113751G>A	ENST00000290573.2	+	15	2770	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	HK2_ENST00000409174.1_Missense_Mutation_p.E696K	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	724	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTTCCGCACAGAATTTGATGT	0.562000													8	64					0	0	0.008291	0	0
STAU1	6780	broad.mit.edu	37	20	47734482	47734482	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:47734482G>C	ENST00000371828.3	-	11	1603	c.1116C>G	c.(1114-1116)gcC>gcG	p.A372A	STAU1_ENST00000371792.1_Silent_p.A364A|STAU1_ENST00000347458.5_Silent_p.A366A|STAU1_ENST00000371856.2_Silent_p.A447A|STAU1_ENST00000360426.4_Silent_p.A366A|STAU1_ENST00000371802.1_Silent_p.A372A|STAU1_ENST00000340954.7_Silent_p.A366A	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	447				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCGTGGCCTTGGCAGGATTCG	0.542000													6	129					0	0	0.001168	0	0
DGKK	139189	broad.mit.edu	37	X	50213528	50213528	+	RNA	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:50213528C>T	ENST00000376025.2	-	0	209							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGGTTCTGGCGAAGCCTCGG	0.682000													10	65					0	0	0.006214	0	0
USP25	29761	broad.mit.edu	37	21	17191058	17191058	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr21:17191058C>T	ENST00000285681.2	+	10	1342	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.L325F|USP25_ENST00000285679.6_Missense_Mutation_p.L325F			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	325					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCAGTACCCACTTCAGGTCAA	0.358000													4	70					0	0	0.000248	0	0
THBS2	7058	broad.mit.edu	37	6	169634857	169634857	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:169634857C>G	ENST00000366787.3	-	11	1872	c.1623G>C	c.(1621-1623)caG>caC	p.Q541H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	541	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTGCACATCTGACGCTCCT	0.627000													6	38					0	0	0.001984	0	0
POU6F1	5463	broad.mit.edu	37	12	51585530	51585530	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:51585530G>A	ENST00000389243.4	-	10	1348	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	POU6F1_ENST00000333640.10_Silent_p.L137L|POU6F1_ENST00000550824.1_Silent_p.L137L			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	137	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TCCTCATCCAGACTTGGAGTA	0.542000													9	82					0	0	0.000978	0	0
ABHD2	11057	broad.mit.edu	37	15	89698596	89698596	+	Splice_Site	SNP	A	A	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:89698596A>T	ENST00000352732.5	+	5	890		c.e5-1		ABHD2_ENST00000355100.3_Splice_Site|ABHD2_ENST00000565973.1_Splice_Site	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2							integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTACGCTATAGATGATATCA	0.428000													11	51					0	0	0.000978	0	0
DBF4	10926	broad.mit.edu	37	7	87516174	87516174	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:87516174G>A	ENST00000265728.1	+	4	919	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	139					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTTAAGCAGAGGAAAATTATT	0.299000													7	75					0	0	0.001984	0	0
MAP7D3	79649	broad.mit.edu	37	X	135326890	135326890	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:135326890C>A	ENST00000316077.9	-	4	538	c.318G>T	c.(316-318)atG>atT	p.M106I	MAP7D3_ENST00000370661.1_Missense_Mutation_p.M106I|MAP7D3_ENST00000370663.5_Missense_Mutation_p.M88I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	106						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GTCTTTCCTCCATCTGTTTTT	0.373000													15	71					1.05317e-09	1.45824e-09	0.002450	1	0
RGAG1	57529	broad.mit.edu	37	X	109695254	109695254	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:109695254C>A	ENST00000465301.2	+	3	1655	c.1409C>A	c.(1408-1410)gCc>gAc	p.A470D	RGAG1_ENST00000540313.1_Missense_Mutation_p.A470D	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	470										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTAACAATGGCCAAAACTTCT	0.507000													20	143					8.00594e-06	1.07432e-05	0.007413	1	0
FLII	2314	broad.mit.edu	37	17	18150355	18150355	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:18150355C>T	ENST00000327031.4	-	22	2913	c.2688G>A	c.(2686-2688)ctG>ctA	p.L896L	FLII_ENST00000545457.2_Silent_p.L841L|FLII_ENST00000379450.4_Silent_p.L810L|FLII_ENST00000579294.1_Silent_p.L885L|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	896	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACTCCTCCATCAGCTGCTCCG	0.682000													5	46					0	0	0.001168	0	0
EML1	2009	broad.mit.edu	37	14	100363537	100363537	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:100363537G>C	ENST00000262233.6	+	7	872	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	EML1_ENST00000327921.9_Missense_Mutation_p.E233Q|EML1_ENST00000334192.4_Missense_Mutation_p.E264Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	245						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCGACGGGAGAGACCGTCTA	0.488000													6	42					0	0	0.004482	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													7	41					0	0	0.001984	0	0
OR8J3	81168	broad.mit.edu	37	11	55904331	55904331	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr11:55904331C>T	ENST00000301529.1	-	1	863	c.864G>A	c.(862-864)ttG>ttA	p.L288L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGCTGTAGATCAAGGGATTCA	0.358000													5	78					0	0	0.001168	0	0
C12orf44	60673	broad.mit.edu	37	12	52470568	52470568	+	Splice_Site	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:52470568A>G	ENST00000336854.4	+	4	730		c.e4-1			NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44						autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CCTTCTTCCCAGGATGCACTG	0.562000													4	40					0	0	0.001168	0	0
ANKRD22	118932	broad.mit.edu	37	10	90583087	90583087	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:90583087G>A	ENST00000371930.4	-	5	658	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	150										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AGAGGGATAAGAGACTGGTTT	0.498000													11	105					0	0	0.000978	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960017	117960017	+	Silent	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:117960017C>G	ENST00000310164.2	+	4	1317	c.810C>G	c.(808-810)ctC>ctG	p.L270L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATGATACCCTCGACGACTCCG	0.582000													9	56					0	0	0.004482	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693066	208693066	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:208693066C>G	ENST00000427836.2	-	8	2752	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q		NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	755					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGGACAGCTCGAACATGGTG	0.562000													9	102					0	0	0.000978	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138327	126138327	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:126138327C>A	ENST00000299308.3	+	9	2316	c.2308C>A	c.(2308-2310)Cag>Aag	p.Q770K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q282K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	770						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGAACCTTGTCAGAAGACCAA	0.448000													16	80					6.31663e-08	8.67705e-08	0.003163	1	0
RAET1K	646024	broad.mit.edu	37	6	150321245	150321245	+	RNA	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:150321245G>T	ENST00000533735.1	-	0	973					NR_024045.1																						GGAGGATAAAGCAGAGGATGA	0.552000													5	23					0.00116845	0.00151347	0.001168	1	0
MED12	9968	broad.mit.edu	37	X	70342101	70342101	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:70342101G>A	ENST00000333646.6	+	8	1352	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	MED12_ENST00000374102.1_Missense_Mutation_p.D385N|MED12_ENST00000374080.3_Missense_Mutation_p.D385N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	385					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCACTGACTGATAGCAGAAT	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	129					0	0	0.003080	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587203	111587203	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:111587203G>C	ENST00000368847.4	+	4	791	c.438G>C	c.(436-438)ccG>ccC	p.P146P		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	146					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTTTGGGTCCGACAGCGTCTG	0.498000													6	37					0	0	0.001168	0	0
AKAP13	11214	broad.mit.edu	37	15	86122892	86122892	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:86122892C>T	ENST00000394518.2	+	7	1688	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.I531I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	531					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGATAAAATCAGTGTTCCAA	0.453000													8	102					0	0	0.006214	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27937724	27937724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:27937724G>T	ENST00000394859.3	+	8	998	c.844G>T	c.(844-846)Gag>Tag	p.E282*	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	282										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						ATCTAACGTGGAGCTCATCAC	0.532000													5	29					1.23904e-05	1.65841e-05	0.000602	1	0
MYO7B	4648	broad.mit.edu	37	2	128377933	128377933	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:128377933G>C	ENST00000389524.4	+	26	3392	c.3339G>C	c.(3337-3339)caG>caC	p.Q1113H	MYO7B_ENST00000409090.1_5'UTR|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1113H|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1113H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1113	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTTACTGCCAGATCTGCAAGC	0.587000													3	78					0	0	0.000602	0	0
CDH6	1004	broad.mit.edu	37	5	31267595	31267595	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:31267595C>T	ENST00000265071.2	+	2	280	c.15C>T	c.(13-15)cgC>cgT	p.R5R	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	5					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACTTACCGCTACTTCTTGC	0.532000													4	60					0	0	0.000602	0	0
DMTF1	9988	broad.mit.edu	37	7	86808996	86808996	+	Translation_Start_Site	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:86808996G>A	ENST00000414194.2	+	0	1477				DMTF1_ENST00000411766.2_Missense_Mutation_p.D178N|DMTF1_ENST00000413276.2_Missense_Mutation_p.D219N|DMTF1_ENST00000394703.5_Missense_Mutation_p.D219N|DMTF1_ENST00000394702.3_Missense_Mutation_p.D219N|DMTF1_ENST00000331242.7_Missense_Mutation_p.D219N|DMTF1_ENST00000432937.2_Missense_Mutation_p.D131N			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1						cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCGCATGTATGATGACAGAAA	0.373000													5	67					0	0	0.000602	0	0
ZNF320	162967	broad.mit.edu	37	19	53384850	53384850	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:53384850C>G	ENST00000595635.1	-	8	1030	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E177Q|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CTATGTATTTCAAGATGTGAT	0.348000													5	39					0	0	0.001168	0	0
AMD1	262	broad.mit.edu	37	6	111214205	111214205	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:111214205G>C	ENST00000368885.3	+	8	1137	c.801G>C	c.(799-801)ctG>ctC	p.L267L	AMD1_ENST00000451850.2_Silent_p.L147L|AMD1_ENST00000368882.3_Silent_p.L119L|AMD1_ENST00000368876.1_Silent_p.L198L|AMD1_ENST00000368877.5_Silent_p.L238L	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	267					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	ATGATGACCTGATCAGGAAAG	0.338000													8	69					0	0	0.003080	0	0
ZNF124	7678	broad.mit.edu	37	1	247319925	247319925	+	Silent	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:247319925A>G	ENST00000340684.6	-	4	951	c.813T>C	c.(811-813)ctT>ctC	p.L271L	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Silent_p.L333L|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TATGCTTCCAAAGGGTACTAG	0.378000													3	47					0	0	0.004672	0	0
SCAF1	58506	broad.mit.edu	37	19	50149374	50149374	+	Missense_Mutation	SNP	G	G	A	rs146838422	byFrequency	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:50149374G>A	ENST00000360565.3	+	4	300	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	59					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GATGGCTCTCGGTGTCATGGC	0.587000													8	34					0	0	0.004482	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597723	41597723	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:41597723C>T	ENST00000330436.3	+	5	741	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	247					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGGAGGACTTCATCGCCAAGA	0.557000													12	42					0	0	0.000978	0	0
TCP1	6950	broad.mit.edu	37	6	160205867	160205867	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:160205867G>C	ENST00000321394.7	-	6	781	c.501C>G	c.(499-501)ttC>ttG	p.F167L	TCP1_ENST00000392168.2_Missense_Mutation_p.F12L|TCP1_ENST00000420894.2_Missense_Mutation_p.F167L|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	167					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGTTAGCAAAGAAATCACCAT	0.403000													3	53					0	0	0.004672	0	0
URB2	9816	broad.mit.edu	37	1	229771649	229771649	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:229771649T>G	ENST00000258243.2	+	4	1425	c.1289T>G	c.(1288-1290)cTg>cGg	p.L430R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	430						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGGATGACCTGCTGGCTTCA	0.493000													3	76					0	0	0.000248	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365284	7365284	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:7365284C>G	ENST00000311403.4	-	4	3356	c.3017G>C	c.(3016-3018)aGa>aCa	p.R1006T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R1006T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	1006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTTCTGGGTTCTCTCAACCCC	0.622000													5	59					0	0	0.000602	0	0
ZNF217	7764	broad.mit.edu	37	20	52198675	52198675	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:52198675G>C	ENST00000371471.2	-	2	1116	c.691C>G	c.(691-693)Cta>Gta	p.L231V	ZNF217_ENST00000302342.3_Missense_Mutation_p.L231V			O75362	ZN217_HUMAN	zinc finger protein 217	231					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTCAATTAGACTTTCTTTA	0.517000													5	114					0	0	0.001168	0	0
COG8	84342	broad.mit.edu	37	16	69368499	69368499	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:69368499G>C	ENST00000306875.4	-	3	1452	c.1338C>G	c.(1336-1338)ttC>ttG	p.F446L	COG8_ENST00000562081.1_Missense_Mutation_p.F446L	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	446					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCAGATCATTGAAGGCAACCA	0.592000													4	45					0	0	0.000248	0	0
GDF15	9518	broad.mit.edu	37	19	18499152	18499152	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:18499152G>A	ENST00000595973.1	+	3	885	c.334G>A	c.(334-336)Gag>Aag	p.E112K	GDF15_ENST00000252809.3_Missense_Mutation_p.E112K			Q99988	GDF15_HUMAN	growth differentiation factor 15	112					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CGCCCTTCCCGAGGGGCTCCC	0.697000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	47					0	0	0.000602	0	0
ZBTB48	3104	broad.mit.edu	37	1	6641229	6641229	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:6641229C>T	ENST00000377674.4	+	2	718	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	187						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGGCCCCTCCTCCCTCTGT	0.602000													6	54					0	0	0.001984	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235704	102235704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr13:102235704C>A	ENST00000376180.3	+	6	1085	c.866C>A	c.(865-867)tCa>tAa	p.S289*	ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.S196*|ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.S148*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	289	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACTTCTGTTCAGGTAAGGGC	0.433000													13	116					2.27111e-07	3.07927e-07	0.001368	1	0
RPL36AL	6166	broad.mit.edu	37	14	50085644	50085644	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:50085644G>C	ENST00000298289.6	-	2	338	c.179C>G	c.(178-180)gCt>gGt	p.A60G		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	60					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					TGTGGTCTTAGCCTTCTTCCG	0.483000													14	94					0	0	0.002450	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79968734	79968734	+	Silent	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:79968734C>A	ENST00000306729.7	+	10	1324	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	ASPSCR1_ENST00000306739.4_Silent_p.P409P|ASPSCR1_ENST00000580534.1_Silent_p.P332P	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	409	UBX.						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCTTCCGCCCCAGCGAGACAG	0.692000			T	TFE3	alveolar soft part sarcoma								6	58					0.00116845	0.00151347	0.001168	1	0
DHX34	9704	broad.mit.edu	37	19	47856643	47856643	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:47856643A>G	ENST00000328771.4	+	2	705	c.356A>G	c.(355-357)cAg>cGg	p.Q119R		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	119						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGGGGCTCTCAGGGACTGGGC	0.637000													3	89					0	0	0.004672	0	0
ARPC1B	10095	broad.mit.edu	37	7	98987558	98987558	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:98987558C>G	ENST00000451682.1	+	7	732	c.423C>G	c.(421-423)atC>atG	p.I141M	ARPC1B_ENST00000252725.5_Missense_Mutation_p.I141M			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	141					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAGCCCATCCGCTCCACCG	0.627000													3	156					0	0	0.004672	0	0
RBM12B	389677	broad.mit.edu	37	8	94748573	94748573	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:94748573G>A	ENST00000399300.2	-	3	279	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RBM12B_ENST00000517700.1_Silent_p.F22F|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	22							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATCCCGTGAAGAAGTGACGAA	0.458000													7	61					0	0	0.003080	0	0
ADCY7	113	broad.mit.edu	37	16	50345660	50345660	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:50345660T>C	ENST00000394697.2	+	20	2751	c.2411T>C	c.(2410-2412)gTc>gCc	p.V804A	ADCY7_ENST00000254235.3_Missense_Mutation_p.V804A			P51828	ADCY7_HUMAN	adenylate cyclase 7	804					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TTCTACCTGGTCCTGTTCTAC	0.582000													21	112					0	0	0.001882	0	0
CABIN1	23523	broad.mit.edu	37	22	24509645	24509645	+	Silent	SNP	G	G	A	rs149239737	byFrequency	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:24509645G>A	ENST00000398319.2	+	27	4615	c.4230G>A	c.(4228-4230)aaG>aaA	p.K1410K	CABIN1_ENST00000263119.5_Silent_p.K1410K|CABIN1_ENST00000405822.2_Silent_p.K1331K	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1410					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACACAGAGAAGAGGCTGCCCA	0.517000													11	69					0	0	0.008291	0	0
CMTM5	116173	broad.mit.edu	37	14	23847574	23847574	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:23847574T>A	ENST00000359320.3	+	2	587	c.143T>A	c.(142-144)aTc>aAc	p.I48N	CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.I48N|CMTM5_ENST00000339180.4_Missense_Mutation_p.I48N|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	48	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		ACCCTCATCATCTTCATCTGC	0.592000													8	30					0	0	0.004482	0	0
ZFP42	132625	broad.mit.edu	37	4	188924516	188924516	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr4:188924516G>C	ENST00000326866.4	+	4	963	c.555G>C	c.(553-555)ctG>ctC	p.L185L	ZFP42_ENST00000509524.1_Silent_p.L185L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	185					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ATGACAGTCTGAGCGCAATCG	0.488000													8	109					0	0	0.004482	0	0
LRRC41	10489	broad.mit.edu	37	1	46763294	46763294	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:46763294G>C	ENST00000343304.6	-	3	583	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	100								p.Q100*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGATGGCCTGAGTTGAGAGG	0.468000													9	69					0	0	0.008291	0	0
ASPM	259266	broad.mit.edu	37	1	197070190	197070190	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:197070190C>T	ENST00000367409.4	-	18	8447	c.8191G>A	c.(8191-8193)Gaa>Aaa	p.E2731K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2731					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTTCTTTCTGTTTTTACT	0.318000													3	29					0	0	0.004672	0	0
SPATA22	84690	broad.mit.edu	37	17	3365780	3365780	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:3365780C>G	ENST00000573128.1	-	5	809	c.326G>C	c.(325-327)tGg>tCg	p.W109S	SPATA22_ENST00000541913.1_Missense_Mutation_p.W93S|SPATA22_ENST00000575375.1_Missense_Mutation_p.W109S|SPATA22_ENST00000397168.3_Missense_Mutation_p.W109S|SPATA22_ENST00000355380.4_Missense_Mutation_p.W66S|SPATA22_ENST00000572969.1_Missense_Mutation_p.W109S|SPATA22_ENST00000268981.5_Missense_Mutation_p.W109S			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	109										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GACTCACCTCCAACCACCCTG	0.398000													11	66					0	0	0.000978	0	0
AGTR2	186	broad.mit.edu	37	X	115304085	115304085	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:115304085C>T	ENST00000371906.4	+	3	742	c.552C>T	c.(550-552)gtC>gtT	p.V184V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	184					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTCGAGACGTCAGAACCATTG	0.413000													5	119					0	0	0.000602	0	0
DTWD2	285605	broad.mit.edu	37	5	118264410	118264410	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:118264410G>A	ENST00000304058.4	-	4	291	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DTWD2_ENST00000510708.1_Missense_Mutation_p.S140L|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	140										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GCAAACAGTTGAAAGTTCAGG	0.303000													8	82					0	0	0.003080	0	0
ATP9A	10079	broad.mit.edu	37	20	50273536	50273536	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:50273536C>T	ENST00000338821.5	-	14	1711	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	ATP9A_ENST00000311637.5_Missense_Mutation_p.E347K|ATP9A_ENST00000402822.1_Missense_Mutation_p.E362K	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	483					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCTCGGCCTCAGCCTGATCA	0.627000													4	30					0	0	0.000602	0	0
DNAH8	1769	broad.mit.edu	37	6	38818042	38818042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:38818042C>T	ENST00000359357.3	+	36	4818	c.4564C>T	c.(4564-4566)Cag>Tag	p.Q1522*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q1522*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q1739*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAACGTTTTCAGAATATTGA	0.348000													4	54					0	0	0.000248	0	0
BEND2	139105	broad.mit.edu	37	X	18189251	18189251	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:18189251G>A	ENST00000380033.4	-	13	2187	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	BEND2_ENST00000380030.3_Silent_p.C594C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2.							p.C685C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAGGCTTGCGCAAGACTTAG	0.428000													6	99					0	0	0.001168	0	0
USP40	55230	broad.mit.edu	37	2	234465641	234465641	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:234465641C>G	ENST00000251722.6	-	5	523	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	USP40_ENST00000427112.2_Missense_Mutation_p.E136Q|USP40_ENST00000450966.1_Missense_Mutation_p.E148Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	136					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CGATTCAGTTCCTGCACATCA	0.388000													8	68					0	0	0.004482	0	0
CCDC39	339829	broad.mit.edu	37	3	180381717	180381717	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:180381717C>G	ENST00000273654.4	-	8	1019	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	CCDC39_ENST00000442201.2_Missense_Mutation_p.E50Q			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	50					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTAATTCGCTCTTCATACTCA	0.328000													9	79					0	0	0.004482	0	0
CYP2E1	1571	broad.mit.edu	37	10	135341025	135341025	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:135341025C>G	ENST00000463117.2	+	3	398	c.126C>G	c.(124-126)atC>atG	p.I42M	CYP2E1_ENST00000252945.3_Missense_Mutation_p.I42M|AL161645.2_ENST00000599428.1_Intron|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	42					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TTCCCATCATCGGGAACCTCT	0.537000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				8	49					0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	2855612	2855612	+	Silent	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:2855612C>A	ENST00000520002.1	-	55	8856	c.8301G>T	c.(8299-8301)acG>acT	p.T2767T	CSMD1_ENST00000542608.1_Silent_p.T2708T|CSMD1_ENST00000400186.3_Silent_p.T2709T|CSMD1_ENST00000537824.1_Silent_p.T2766T|CSMD1_ENST00000602723.1_Silent_p.T2709T|CSMD1_ENST00000602557.1_Silent_p.T2767T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2767	Sushi 19.					integral to membrane		p.T2766T(1)|p.T2495T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAATAGCCCGTGTTGCAGG	0.557000													11	59					2.80697e-09	3.8763e-09	0.000978	1	0
CUBN	8029	broad.mit.edu	37	10	16930444	16930444	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:16930444G>A	ENST00000377833.4	-	56	8942	c.8877C>T	c.(8875-8877)ctC>ctT	p.L2959L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2959	CUB 22.				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)	CAAAAGTCAAGAGGACCACTG	0.338000													3	34					0	0	0.004672	0	0
DHX36	170506	broad.mit.edu	37	3	154011591	154011591	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:154011591C>G	ENST00000496811.1	-	14	1696	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	DHX36_ENST00000308361.6_Missense_Mutation_p.R539T|DHX36_ENST00000329463.5_Missense_Mutation_p.R525T|DHX36_ENST00000544526.1_Missense_Mutation_p.R525T	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	539	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R539I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGAGGGGTTCTTTTAAACAC	0.299000													8	55					0	0	0.006214	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668599	71668599	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:71668599G>C	ENST00000268485.3	+	3	1143	c.1099G>C	c.(1099-1101)Gct>Cct	p.A367P	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	367	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGGAATCTTTGCTGCCCTGGG	0.522000													7	46					0	0	0.004482	0	0
FOXA2	3170	broad.mit.edu	37	20	22563643	22563643	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:22563643C>T	ENST00000419308.2	-	2	421	c.219G>A	c.(217-219)atG>atA	p.M73I	FOXA2_ENST00000377115.4_Missense_Mutation_p.M73I|FOXA2_ENST00000319993.4_Missense_Mutation_p.M79I	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	73	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGGACGGGCTCATGCCAGCGC	0.731000													4	47					0	0	0.000602	0	0
PAK2	5062	broad.mit.edu	37	3	196509565	196509565	+	Silent	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:196509565G>A	ENST00000327134.3	+	2	370	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	16					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CACCTCCTGTGCGAATGAGCA	0.433000													14	141					0	0	0.002450	0	0
DNM1	1759	broad.mit.edu	37	9	130982538	130982538	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:130982538G>A	ENST00000341179.7	+	6	859	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	DNM1_ENST00000486160.1_Missense_Mutation_p.R256Q|DNM1_ENST00000393594.3_Missense_Mutation_p.R256Q|DNM1_ENST00000372923.3_Missense_Mutation_p.R256Q|DNM1_ENST00000475805.1_Missense_Mutation_p.R256Q	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	256					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R256L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCTGAACGAAAGTTCTTC	0.547000													17	77					0	0	0.007413	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360	by1000genomes	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:47325354G>A	ENST00000505841.1	-	0	1175					NR_002788.2																						CATCTGGAAAGGTAATGGGTT	0.438000													12	59					0	0	0.003163	0	0
ROR2	4920	broad.mit.edu	37	9	94486104	94486104	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr9:94486104G>A	ENST00000375708.3	-	9	2870	c.2672C>T	c.(2671-2673)tCa>tTa	p.S891L	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	891					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCGCCCTCTGAGAGCAGGGC	0.632000													5	90					0	0	0.001168	0	0
ACIN1	22985	broad.mit.edu	37	14	23549045	23549045	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:23549045C>A	ENST00000262710.1	-	6	2000	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	ACIN1_ENST00000555053.1_Missense_Mutation_p.R558I|ACIN1_ENST00000605057.1_Missense_Mutation_p.R500I|ACIN1_ENST00000457657.1_Missense_Mutation_p.R518I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	558					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAAGCTCTTCTGCCTTCCTT	0.478000													5	126					0.00116845	0.00151347	0.001168	1	0
RASSF1	11186	broad.mit.edu	37	3	50369288	50369288	+	Splice_Site	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:50369288C>G	ENST00000359365.4	-	4	569		c.e4-1		RASSF1_ENST00000327761.3_Splice_Site|RASSF1_ENST00000395126.3_Splice_Site|RASSF1_ENST00000357043.2_Splice_Site	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1						cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTCCTTGTTCTAAAGAAATA	0.507000													4	31					0	0	0.000248	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958565	122958565	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:122958565C>T	ENST00000543897.1	-	12	3244	c.889G>A	c.(889-891)Gag>Aag	p.E297K	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E535K|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E146K|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E297K			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	535						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	p.E535K(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTACGCTCTCGGCCTGCTCA	0.547000													17	182					0	0	0.004990	0	0
FLII	2314	broad.mit.edu	37	17	18154698	18154698	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr17:18154698C>T	ENST00000327031.4	-	13	1702	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	FLII_ENST00000545457.2_Missense_Mutation_p.E438K|FLII_ENST00000379450.4_Missense_Mutation_p.E407K|FLII_ENST00000579294.1_Missense_Mutation_p.E482K|FLII_ENST00000578558.1_Missense_Mutation_p.E492K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	493					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCACGTCCTCCGTGAAGAAC	0.652000													4	46					0	0	0.000248	0	0
ZNF138	7697	broad.mit.edu	37	7	64292443	64292443	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:64292443G>A	ENST00000359735.3	+	4	999	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.E218K|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.E249K|ZNF138_ENST00000307355.7_Missense_Mutation_p.E275K|ZNF138_ENST00000437743.1_Missense_Mutation_p.E243K	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	249					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AATTCATACTGAAGAGAAACC	0.378000													7	31					0	0	0.001984	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069364	6069364	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:6069364G>C	ENST00000381095.3	-	2	771	c.144C>G	c.(142-144)gtC>gtG	p.V48V	NLGN4X_ENST00000381092.1_Silent_p.V48V|NLGN4X_ENST00000275857.6_Silent_p.V48V|NLGN4X_ENST00000538097.1_Silent_p.V48V|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.V48V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	48					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AATTTGTGTTGACAACTGGAT	0.512000													3	82					0	0	0.004672	0	0
MIR758	768212	broad.mit.edu	37	14	101492438	101492438	+	RNA	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:101492438C>G	ENST00000390227.1	+	0	82					NR_030406.1																						CCCTCAGTATCTAATGCCCCC	0.507000													5	106					0	0	0.001168	0	0
PLTP	5360	broad.mit.edu	37	20	44536380	44536380	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr20:44536380G>C	ENST00000542937.1	-	6	1158	c.624C>G	c.(622-624)ctC>ctG	p.L208L	PLTP_ENST00000420868.2_Silent_p.L93L|PLTP_ENST00000372420.1_Silent_p.L100L|PLTP_ENST00000372431.3_Silent_p.L188L|PLTP_ENST00000354050.4_Silent_p.L136L|PLTP_ENST00000477313.1_Silent_p.L188L			P55058	PLTP_HUMAN	phospholipid transfer protein	188					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CTGCGTGGTAGAGGACAGGGC	0.637000													5	32					0	0	0.000602	0	0
DTNB	1838	broad.mit.edu	37	2	25606753	25606753	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:25606753C>T	ENST00000406818.3	-	19	2080	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	DTNB_ENST00000288642.8_Missense_Mutation_p.E581K|DTNB_ENST00000407186.1_Missense_Mutation_p.E574K|DTNB_ENST00000545439.1_Missense_Mutation_p.E400K|DTNB_ENST00000496972.2_Intron|DTNB_ENST00000404103.3_Missense_Mutation_p.E581K|DTNB_ENST00000405222.1_Missense_Mutation_p.E544K|DTNB_ENST00000407661.3_Intron|DTNB_ENST00000407038.3_Missense_Mutation_p.E551K	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	611						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCACCTTCCTCTGCTGTG	0.522000													12	107					0	0	0.001368	0	0
MICALL1	85377	broad.mit.edu	37	22	38328813	38328813	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:38328813G>A	ENST00000215957.6	+	12	2278	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	718						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGAGGGCCGTGAGGATGACAT	0.637000													6	26					0	0	0.001984	0	0
ZNF761	388561	broad.mit.edu	37	19	53945837	53945837	+	RNA	SNP	T	T	C	rs17855120	by1000genomes	TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:53945837T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACCAGACTTTGCTTGACCT	0.512000													3	35					0	0	0.001984	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392996	26392996	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:26392996C>T	ENST00000356709.4	+	8	1484	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.S248F|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.S342F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.S458F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	458	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGAGATGTCTCCTTCTACAAC	0.547000													5	78					0	0	0.000602	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692597	38692597	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr19:38692597G>C	ENST00000222345.6	+	20	5589	c.5080G>C	c.(5080-5082)Gag>Cag	p.E1694Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1694					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGAGCCTGGAGAGGGGACC	0.647000													6	53					0	0	0.001984	0	0
CCDC60	160777	broad.mit.edu	37	12	119773051	119773051	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr12:119773051G>A	ENST00000327554.2	+	1	535	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.A24T|CCDC60_ENST00000536742.1_Missense_Mutation_p.A24T	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	24										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCCCTTTTATGCCTCGGAGAA	0.483000													8	60					0	0	0.004482	0	0
DKC1	1736	broad.mit.edu	37	X	153997527	153997527	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:153997527T>C	ENST00000369550.5	+	9	1067	c.857T>C	c.(856-858)gTt>gCt	p.V286A	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	286					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGCGAGTTGTTTACCCTTTG	0.443000									Congenital Dyskeratosis				11	114					0	0	0.008291	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540179	111540179	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:111540179G>C	ENST00000261486.5	-	15	1545	c.1269C>G	c.(1267-1269)ctC>ctG	p.L423L	CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000505825.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	423						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GAGAATTGTAGAGTCCACTGG	0.502000													8	69					0	0	0.003080	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139339	142139339	+	RNA	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:142139339G>C	ENST00000390374.3	-	0	330																											TGGATCGTCAGAGTGGAGACG	0.542000													4	112					0	0	0.000248	0	0
GRHL3	57822	broad.mit.edu	37	1	24663233	24663233	+	Silent	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:24663233C>T	ENST00000361548.4	+	4	758	c.528C>T	c.(526-528)ctC>ctT	p.L176L	GRHL3_ENST00000356046.2_Silent_p.L130L|GRHL3_ENST00000350501.5_Silent_p.L176L|GRHL3_ENST00000342072.4_Silent_p.L83L|GRHL3_ENST00000236255.4_Silent_p.L181L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	176					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ATGGCTCCCTCAACTCCTTGT	0.602000													12	82					0	0	0.002450	0	0
ZNF592	9640	broad.mit.edu	37	15	85327584	85327584	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr15:85327584C>T	ENST00000299927.3	+	1	1700	c.1678C>T	c.(1678-1680)Cac>Tac	p.H560Y	ZNF592_ENST00000560079.2_Missense_Mutation_p.H560Y			Q92610	ZN592_HUMAN	zinc finger protein 592	560					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGGTCCTTCACAGCTCCAA	0.602000													6	101					0	0	0.001984	0	0
F8	2157	broad.mit.edu	37	X	154159700	154159700	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chrX:154159700C>T	ENST00000360256.4	-	14	2565	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	789	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACCAAGGGTCAGTCTTCTCT	0.433000													6	122					0	0	0.001168	0	0
STAB1	23166	broad.mit.edu	37	3	52557144	52557144	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:52557144C>G	ENST00000321725.6	+	63	7090	c.7014C>G	c.(7012-7014)ttC>ttG	p.F2338L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2338	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTCCACCTTCTATGGGGTGT	0.622000													13	55					0	0	0.001855	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024834	176024834	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr5:176024834C>T	ENST00000303991.4	-	2	2179	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	668						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCACCTTCTCTGAGGCCTGT	0.582000													3	35					0	0	0.004672	0	0
LEMD2	221496	broad.mit.edu	37	6	33744960	33744960	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:33744960C>G	ENST00000293760.5	-	7	1232	c.1213G>C	c.(1213-1215)Gaa>Caa	p.E405Q	LEMD2_ENST00000508327.1_Missense_Mutation_p.E103Q|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	405	Poly-Glu.					integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TCCTCCTCTTCTAACTTTCGC	0.493000													4	187					0	0	0.000248	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437124	142437124	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:142437124C>T	ENST00000520105.1	+	4	1227	c.284C>T	c.(283-285)gCc>gTc	p.A95V	PTP4A3_ENST00000329397.1_Missense_Mutation_p.A95V|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Missense_Mutation_p.A95V|PTP4A3_ENST00000349124.1_Missense_Mutation_p.A95V			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	95	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TTCTGTGAGGCCCCCGGCAGC	0.687000													9	130					0	0	0.004482	0	0
GREB1	9687	broad.mit.edu	37	2	11738826	11738826	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:11738826C>G	ENST00000381486.2	+	15	2473	c.2173C>G	c.(2173-2175)Ctg>Gtg	p.L725V	GREB1_ENST00000234142.5_Missense_Mutation_p.L725V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	725						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGCTTGGTCTGAAGAAAGA	0.463000													7	94					0	0	0.004482	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	13					0	0	0.000248	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431919	117431919	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr7:117431919C>T	ENST00000160373.3	-	4	1422	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	444	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGCTTGGATTCGTGGGTTTAG	0.478000													23	183					0	0	0.002299	0	0
IMPA1	3612	broad.mit.edu	37	8	82571627	82571627	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr8:82571627C>G	ENST00000256108.5	-	9	1258	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.E324Q	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	265					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	ACCTGAATTTCTTTAGCTATC	0.363000													4	50					0	0	0.000602	0	0
GSKIP	51527	broad.mit.edu	37	14	96848643	96848643	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:96848643C>T	ENST00000556095.1	+	3	1871	c.59C>T	c.(58-60)tCa>tTa	p.S20L	GSKIP_ENST00000438650.1_Missense_Mutation_p.S20L|GSKIP_ENST00000555181.1_Missense_Mutation_p.S20L|GSKIP_ENST00000554182.1_Missense_Mutation_p.S20L	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		GAAGAAGGTTCAGAGCTGAAC	0.363000													5	52					0	0	0.000602	0	0
WRNIP1	56897	broad.mit.edu	37	6	2769019	2769019	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:2769019G>A	ENST00000380769.4	+	2	488	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	WRNIP1_ENST00000380771.4_Missense_Mutation_p.R306Q|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380773.4_Missense_Mutation_p.R306Q			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	306					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AATGATGTGCGAGATGTCATA	0.373000													4	42					0	0	0.000248	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650906	43650906	+	Silent	SNP	G	G	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr10:43650906G>C	ENST00000374466.3	+	2	644	c.309G>C	c.(307-309)ggG>ggC	p.G103G	CSGALNACT2_ENST00000374464.1_Silent_p.G103G	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	103					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAATGTAGGGGCTAATGGCA	0.433000													3	49					0	0	0.000248	0	0
HCRTR1	3061	broad.mit.edu	37	1	32092522	32092523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:32092522_32092523insC	ENST00000403528.2	+	9	1604_1605	c.1219_1220insC	c.(1219-1221)catfs	p.H407fs	HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Frame_Shift_Ins_p.H407fs	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	407					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GAGCCGATGCTCCATCTCCAAA	0.658													15	137	---	---	---	---					
GPR52	9293	broad.mit.edu	37	1	174417660	174417661	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr1:174417660_174417661delGG	ENST00000367685.2	+	1	449_450	c.411_412delGG	c.(409-414)gtatfs	p.VD137fs	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	137						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GCATCAGTGTGGATCGTTATCT	0.426													7	170	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25505430	25505431	+	Frame_Shift_Ins	INS	-	-	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:25505430_25505431insC	ENST00000264709.3	-	4	664_665	c.327_328insG	c.(325-330)ggagaafs	p.E110fs	DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.E110fs|DNMT3A_ENST00000406659.3_Frame_Shift_Ins_p.E110fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	110					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.Q110fs*14(2)|p.Q110fs*52(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCCTTCTGCCCCCCAGCAG	0.658			"""Mis, F, N, S"""		AML								8	45	---	---	---	---					
MGAT5	4249	broad.mit.edu	37	2	135107508	135107508	+	Splice_Site	DEL	C	C	-			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:135107508delC	ENST00000409645.1	+	10	1497	c.1246_splice	c.e10+1	p.F415_splice	MGAT5_ENST00000281923.2_Splice_Site_p.F415_splice			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	415					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATACCATGTTCCGTGAGTATT	0.423													11	60	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179615757	179615757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr2:179615757delG	ENST00000360870.5	-	46	11592	c.11370delC	c.(11368-11370)ccfs	p.P3790fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9627							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)			GAAAGCTTGTGGGAAGTTCCT	0.353													7	146	---	---	---	---					
RYBP	23429	broad.mit.edu	37	3	72428503	72428504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr3:72428503_72428504insT	ENST00000477973.1	-	2	497_498	c.498_499insA	c.(496-501)aagagafs	p.R167fs		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	218	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CCTTCTTCTCCTTTTTAGGGGG	0.401													17	85	---	---	---	---					
ROS1	6098	broad.mit.edu	37	6	117665407	117665407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr6:117665407delA	ENST00000368508.3	-	27	4538	c.4340delT	c.(4339-4341)cafs	p.L1447fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.L1441fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1447					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCTGAAGCTAGAGACAGAAA	0.348			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	41	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													2	4	---	---	---	---					
TOX3	27324	broad.mit.edu	37	16	52473381	52473383	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr16:52473381_52473383delTGC	ENST00000219746.9	-	7	1769_1771	c.1485_1487delGCA	c.(1483-1488)cat>ca	p.QH495del	TOX3_ENST00000407228.3_In_Frame_Del_p.QH490del	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	495	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ctgctggagatgctgctgctgct	0.567													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-91-6830-01A-11D-1945-08	TCGA-91-6830-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54869990-9fda-4876-8331-63a6bbf06756	73057f96-7752-4b61-9125-c9d26de48846	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													3	4	---	---	---	---					
