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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GPR98	84059	broad.mit.edu	37	5	90052965	90052965	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:90052965T>A	uc003kju.3	+	56	12023	c.11927T>A	c.(11926-11928)tTt>tAt	p.F3976Y	GPR98_uc003kjt.3_Missense_Mutation_p.F1682Y|GPR98_uc003kjv.3_Missense_Mutation_p.F1576Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3976	Calx-beta 26.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E3975Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTCTTGAATTTGCAGATAAA	0.413000														39			4		0	0	0.009096	0	0
MAD1L1	8379	broad.mit.edu	37	7	1855740	1855740	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:1855740G>A	uc003slh.1	-	18	2389	c.2123C>T	c.(2122-2124)aCc>aTc	p.T708I	MAD1L1_uc003sle.1_Missense_Mutation_p.T437I|MAD1L1_uc003slf.1_Missense_Mutation_p.T708I|MAD1L1_uc003slg.1_Missense_Mutation_p.T708I|MAD1L1_uc010ksh.1_Missense_Mutation_p.T708I|MAD1L1_uc003sli.1_Missense_Mutation_p.T616I|MAD1L1_uc003sld.1_Missense_Mutation_p.T164I	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	708					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GAGCTCGAGGGTGAGCGAGCT	0.667000														49			13		0	0	0.016723	0	0
CACNA1S	779	broad.mit.edu	37	1	201017795	201017795	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:201017795G>T	uc001gvv.3	-	35	4583	c.4356C>A	c.(4354-4356)aaC>aaA	p.N1452K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1452					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGGGGCATGTTCATGCCCA	0.617000														58			6		8.12818e-05	9.32351e-05	0.029380	1	0
SLC26A10	65012	broad.mit.edu	37	12	58016635	58016635	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr12:58016635T>C	uc001spe.3	+	5	1168	c.857T>C	c.(856-858)aTt>aCt	p.I286T	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	286						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCGCTGCCCATTGCACTGGTT	0.572000														81			12		0	0	0.013537	0	0
DRD5	1816	broad.mit.edu	37	4	9784079	9784079	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr4:9784079C>G	uc003gmb.4	+	0	822	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	142					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACTGGGCCATCTCCAGGCCCT	0.597000														44			5		0	0	0.014758	0	0
MYO1F	4542	broad.mit.edu	37	19	8604865	8604865	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr19:8604865T>G	uc002mkg.3	-	15	1796	c.1658A>C	c.(1657-1659)aAg>aCg	p.K553T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	553	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGCGCCCCTTCTTGTCTCC	0.632000														63			5		0	0	0.021553	0	0
SRBD1	55133	broad.mit.edu	37	2	45647009	45647009	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:45647009T>C	uc002rus.3	-	16	2150	c.2074A>G	c.(2074-2076)Aag>Gag	p.K692E	SRBD1_uc010yoc.2_Missense_Mutation_p.K211E	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	692					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTGTTGCCTTGAGTAAAGTC	0.383000														126			15		0	0	0.033300	0	0
OTUD4	54726	broad.mit.edu	37	4	146076795	146076795	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr4:146076795C>A	uc003ika.4	-	8	677	c.539G>T	c.(538-540)aGa>aTa	p.R180I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	244							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AAGAACCTTTCTAGACAAAGG	0.358000														134			9		0.000274275	0.000301316	0.004482	1	0
PYHIN1	149628	broad.mit.edu	37	1	158912063	158912063	+	Silent	SNP	T	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:158912063T>G	uc001ftb.3	+	4	1126	c.876T>G	c.(874-876)gcT>gcG	p.A292A	PYHIN1_uc001ftc.3_Silent_p.A283A|PYHIN1_uc001ftd.3_Silent_p.A292A|PYHIN1_uc001fte.3_Silent_p.A283A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	292	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TATCTGAAGCTGGTCCTGACC	0.353000														56			4		0	0	0.029380	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24243093	24243093	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr13:24243093A>C	uc001uov.2	+	8	1306	c.1102A>C	c.(1102-1104)Aac>Cac	p.N368H	TNFRSF19_uc001uot.3_Missense_Mutation_p.N368H|TNFRSF19_uc010tcu.2_Missense_Mutation_p.N236H|TNFRSF19_uc001uow.3_Missense_Mutation_p.N368H	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	368					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCATTCTGAAAACTTTACAGC	0.413000														125			12		0	0	0.013537	0	0
SCRN2	90507	broad.mit.edu	37	17	45915217	45915217	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:45915217T>C	uc002imd.3	-	7	1397	c.1271A>G	c.(1270-1272)tAt>tGt	p.Y424C	SCRN2_uc002imf.3_3'UTR	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	424					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGCTTACGCATAAGCCTGGCT	0.657000														31			6		0	0	0.003080	0	0
HERC2	8924	broad.mit.edu	37	15	28510872	28510872	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:28510872T>A	uc001zbj.3	-	13	1868	c.1762A>T	c.(1762-1764)Agt>Tgt	p.S588C	HERC2_uc001zbl.1_Missense_Mutation_p.S283C	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	588					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCGTCCTCACTGGAGCCTTCA	0.577000														70			10		0	0	0.006214	0	0
FES	2242	broad.mit.edu	37	15	91438758	91438758	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:91438758G>T	uc002bpv.3	+	18	2558	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	FES_uc010uqj.2_Missense_Mutation_p.E685D|FES_uc010uqk.2_Missense_Mutation_p.E795D|FES_uc002bpx.3_Missense_Mutation_p.E743D|FES_uc002bpy.3_Missense_Mutation_p.E755D|FES_uc010bny.3_Missense_Mutation_p.E672D	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	813	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTACCAGGAGCTGCAGAGCA	0.642000														79			5		2.0095e-06	2.37486e-06	0.029380	1	0
KAT5	10524	broad.mit.edu	37	11	65480307	65480307	+	Splice_Site	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr11:65480307T>A	uc001ofi.3	+	3	414	c.148_splice	c.e3+2	p.F50_splice	KAT5_uc001ofj.3_Splice_Site_p.F50_splice|KAT5_uc001ofk.3_Splice_Site_p.F83_splice|KAT5_uc010roo.2_Splice_Site_p.F83_splice|KAT5_uc001ofl.3_Splice_Site	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	50					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						ACATTGACTGTGAGTTCTGGG	0.547000														99			5		0	0	0.021553	0	0
RFX6	222546	broad.mit.edu	37	6	117241541	117241541	+	Silent	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr6:117241541T>C	uc003pxm.3	+	11	1314	c.1251T>C	c.(1249-1251)gaT>gaC	p.D417D		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	417					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAAGGGTTGATTTGAACAGCA	0.418000														205			21		0	0	0.010504	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404533	113404533	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:113404533A>T	uc002tib.3	+	1	667	c.128A>T	c.(127-129)gAt>gTt	p.D43V	FLJ42351_uc010fkq.2_5'Flank	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	43					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GGAGCCAATGATGTAGCAAAT	0.502000														79			9		0	0	0.004482	0	0
TXNIP	10628	broad.mit.edu	37	1	145439917	145439917	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:145439917G>A	uc001enn.4	+	2	804	c.463G>A	c.(463-465)Gat>Aat	p.D155N	TXNIP_uc010oys.2_Missense_Mutation_p.D100N	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	155					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)					CAATACCCCTGATTTAATGGT	0.428000														134			16		0	0	0.024245	0	0
FBXO38	81545	broad.mit.edu	37	5	147781650	147781650	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:147781650A>G	uc003lpf.1	+	3	488	c.368A>G	c.(367-369)cAt>cGt	p.H123R	FBXO38_uc003lpg.1_Missense_Mutation_p.H123R|FBXO38_uc003lph.2_Missense_Mutation_p.H123R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	123						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAGGGGCCATGAGGCTTTT	0.458000														108			17		0	0	0.033300	0	0
CALCR	799	broad.mit.edu	37	7	93055856	93055856	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:93055856A>G	uc003umv.2	-	15	1639	c.1339T>C	c.(1339-1341)Tgg>Cgg	p.W447R	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.W413R|CALCR_uc003umw.2_Missense_Mutation_p.W413R	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	429	Poly-Ala.				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGCTGGTTCCACTGAATTTTG	0.542000														107			13		0	0	0.013537	0	0
TEX2	55852	broad.mit.edu	37	17	62290509	62290509	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:62290509C>T	uc002jed.3	-	1	1220	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	TEX2_uc002jec.3_Missense_Mutation_p.G357S|TEX2_uc002jee.3_Missense_Mutation_p.G357S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	357					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTCCGTAGCCATCCCCCTCA	0.498000														90			11		0	0	0.008291	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664290	169664290	+	RNA	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr3:169664290T>C	uc011bpp.2	-	1		c.3513A>G								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CTTGTTGTCCTTGGCCACAAA	0.522000														63			6		0	0	0.021553	0	0
PRPF8	10594	broad.mit.edu	37	17	1564455	1564455	+	Splice_Site	SNP	A	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:1564455A>T	uc002fte.3	-	28	4453	c.4339_splice	c.e28-1	p.V1447_splice		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1447						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCTTCAAAACCTAGATGGC	0.547000														62			8		0	0	0.003080	0	0
PTPRJ	5795	broad.mit.edu	37	11	48152110	48152110	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr11:48152110T>C	uc001ngp.4	+	7	1812	c.1457T>C	c.(1456-1458)aTc>aCc	p.I486T	PTPRJ_uc001ngo.4_Missense_Mutation_p.I486T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	486	Fibronectin type-III 5.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGATGCATATCACACAGGAG	0.478000														43			6		0	0	0.021553	0	0
OR2T12	127064	broad.mit.edu	37	1	248458256	248458256	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:248458256A>G	uc010pzj.2	-	0	625	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(2)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|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;0.0201)			ATGAGGGAAAAGGGGACCAGG	0.547000														80			3		0	0	0.004672	0	0
TSC2	7249	broad.mit.edu	37	16	2126139	2126139	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr16:2126139T>C	uc002con.3	+	23	2816	c.2710T>C	c.(2710-2712)Ttc>Ctc	p.F904L	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.F904L|TSC2_uc002coo.3_Missense_Mutation_p.F904L|TSC2_uc010uvv.2_Missense_Mutation_p.F867L|TSC2_uc010uvw.2_Missense_Mutation_p.F855L|TSC2_uc002cop.3_Missense_Mutation_p.F704L	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	904					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCGCCTGCCCTTCCGGAAGGA	0.567000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					68			11		0	0	0.013537	0	0
EPHB6	2051	broad.mit.edu	37	7	142562311	142562311	+	Silent	SNP	G	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:142562311G>T	uc011kst.2	+	6	1540	c.753G>T	c.(751-753)ggG>ggT	p.G251G	EPHB6_uc011ksu.2_Silent_p.G251G|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	251	Cys-rich.					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)					GTGGGGCTGGGGGGGCCTCCC	0.682000														159			30		2.08457e-15	2.54057e-15	0.010818	1	0
GPS2	2874	broad.mit.edu	37	17	7220554	7220554	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:7220554G>A	uc002gga.1	-	27	4461	c.4454C>T	c.(4453-4455)gCt>gTt	p.A1485V	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Missense_Mutation_p.A1483V	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	165					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTCCGCCCCAGCATATTGAAG	0.647000														36			3		0	0	0.014758	0	0
YEATS4	8089	broad.mit.edu	37	12	69759615	69759615	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr12:69759615A>C	uc001sux.3	+	3	505	c.284A>C	c.(283-285)gAa>gCa	p.E95A		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	95	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GGATGGGGTGAATTCGAAATA	0.279000														125			26		0	0	0.037714	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404573	113404573	+	Silent	SNP	A	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:113404573A>G	uc002tib.3	+	1	707	c.168A>G	c.(166-168)gtA>gtG	p.V56V	FLJ42351_uc010fkq.2_5'Flank	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	56					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCTCAGGTGTAGTGACCCTGA	0.507000														63			5		0	0	0.014758	0	0
UBE3B	89910	broad.mit.edu	37	12	109939240	109939240	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr12:109939240C>T	uc001top.3	+	12	1786	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	UBE3B_uc001toq.3_Missense_Mutation_p.R395W|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.R395W	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	395					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTCTGATCCGGATCTTCTT	0.552000														166			31		0	0	0.034045	0	0
ERCC3	2071	broad.mit.edu	37	2	128050232	128050232	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:128050232T>A	uc002toh.1	-	2	520	c.425A>T	c.(424-426)aAg>aTg	p.K142M	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Missense_Mutation_p.K78M|ERCC3_uc002tog.1_Missense_Mutation_p.K78M|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_Missense_Mutation_p.S95C	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	142					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTGCTGAGCTTCCTGAGGTA	0.493000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					88			12		0	0	0.010729	0	0
FAM151A	338094	broad.mit.edu	37	1	55077293	55077293	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:55077293A>C	uc001cxn.3	-	5	1058	c.926T>G	c.(925-927)tTc>tGc	p.F309C	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	309						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCTGCTTGAACTGTGACAG	0.567000														123			9		0	0	0.004482	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800653	28800653	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:28800653A>T	uc001bpy.3	+	5	1676	c.1441A>T	c.(1441-1443)Atg>Ttg	p.M481L	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.M471L|PHACTR4_uc001bpx.3_Missense_Mutation_p.M455L	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	471	Poly-Glu.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CACTATTGAAATGCTAAAAGT	0.413000														157			17		0	0	0.033300	0	0
GAPVD1	26130	broad.mit.edu	37	9	128117986	128117986	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr9:128117986T>A	uc004bpp.3	+	23	4062	c.3902T>A	c.(3901-3903)cTt>cAt	p.L1301H	GAPVD1_uc004bpq.3_Missense_Mutation_p.L1274H|GAPVD1_uc010mwx.3_Missense_Mutation_p.L1292H|GAPVD1_uc004bpr.3_Missense_Mutation_p.L1253H|GAPVD1_uc004bps.3_Missense_Mutation_p.L1247H|GAPVD1_uc004bpt.3_Missense_Mutation_p.L307H	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1292					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGCAGTTTCTTTATGGTGCA	0.413000														53			5		0	0	0.029380	0	0
CKAP2	26586	broad.mit.edu	37	13	53042426	53042426	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr13:53042426T>A	uc001vgv.2	+	6	1690	c.1493T>A	c.(1492-1494)aTg>aAg	p.M498K	CKAP2_uc001vgu.2_Missense_Mutation_p.M497K|CKAP2_uc010tha.1_Missense_Mutation_p.M449K	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	498					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATTGAAGAGATGCGACACACG	0.299000														36			3		0	0	0.009096	0	0
PDP1	54704	broad.mit.edu	37	8	94935503	94935503	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr8:94935503T>A	uc011lgn.2	+	1	1442	c.1393T>A	c.(1393-1395)Tta>Ata	p.L465I	PDP1_uc003ygf.3_Missense_Mutation_p.L431I|PDP1_uc003yge.3_Missense_Mutation_p.L406I|PDP1_uc010max.3_Missense_Mutation_p.L431I|PDP1_uc011lgm.2_Missense_Mutation_p.L406I|PDP1_uc022ayg.1_Missense_Mutation_p.L406I	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	406					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTACCACCGATTAAGGCCACA	0.458000														129			12		0	0	0.013537	0	0
EIF5B	9669	broad.mit.edu	37	2	99978207	99978207	+	Silent	SNP	A	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:99978207A>T	uc002tab.3	+	3	1027	c.843A>T	c.(841-843)gtA>gtT	p.V281V		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	281					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.T280A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGAAACTGTAAAATCCAAAG	0.388000														145			13		0	0	0.020292	0	0
GLI3	2737	broad.mit.edu	37	7	42004728	42004728	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:42004728G>T	uc011kbh.2	-	14	4034	c.3943C>A	c.(3943-3945)Cag>Aag	p.Q1315K	GLI3_uc011kbg.2_Missense_Mutation_p.Q1256K	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1315					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTGGGTCCTGGTTCTGCATG	0.652000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					76			5		0.000602214	0.000652399	0.014758	1	0
TMEM62	80021	broad.mit.edu	37	15	43426530	43426530	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:43426530A>G	uc001zqr.3	+	1	535	c.256A>G	c.(256-258)Att>Gtt	p.I86V	TMEM62_uc010bda.3_5'UTR	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	86						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTCTGAAACTATTGACATCAT	0.507000														64			6		0	0	0.003080	0	0
IL5RA	3568	broad.mit.edu	37	3	3143448	3143448	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr3:3143448G>A	uc011ask.2	-	5	939	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	IL5RA_uc010hbq.3_Missense_Mutation_p.R99W|IL5RA_uc010hbr.3_Missense_Mutation_p.R99W|IL5RA_uc010hbs.3_Missense_Mutation_p.R99W|IL5RA_uc011asl.2_Missense_Mutation_p.R99W|IL5RA_uc011asm.1_Missense_Mutation_p.R99W|IL5RA_uc010hbt.2_Missense_Mutation_p.R99W|IL5RA_uc011asn.1_Missense_Mutation_p.R99W|IL5RA_uc010hbu.2_Missense_Mutation_p.R99W	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	99					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGGATGGTCCGCACACTTGCT	0.463000														66			4		0	0	0.009096	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379406	67379406	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr11:67379406C>A	uc001omj.2	+	7	1272	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L	NDUFV1_uc010rpv.1_Missense_Mutation_p.F272L|NDUFV1_uc001omk.4_Missense_Mutation_p.F364L|NDUFV1_uc001oml.2_Missense_Mutation_p.F366L|NDUFV1_uc009yrz.1_3'UTR|NDUFV1_uc010rpw.1_Missense_Mutation_p.F82L	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	373					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TCATTGAGTTCTATAAGCACG	0.612000														79			10		1.76689e-08	2.12027e-08	0.006214	1	0
CLEC14A	161198	broad.mit.edu	37	14	38723829	38723829	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr14:38723829C>T	uc001wum.1	-	0	1746	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	467						integral to membrane	sugar binding	p.V466V(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCACAGTCCCCGACTTTCACC	0.597000														116			17		0	0	0.007413	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910683	101910683	+	Silent	SNP	G	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chrX:101910683G>C	uc010nod.3	+	2	2484	c.1842G>C	c.(1840-1842)ggG>ggC	p.G614G	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.G614G|GPRASP1_uc004ejj.4_Silent_p.G614G|GPRASP1_uc004eji.4_Silent_p.G614G|GPRASP1_uc022cbd.1_Silent_p.G614G	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	614	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCATTATTGGGTCCTGGTTTT	0.512000														112			21		0	0	0.012319	0	0
NFIB	4781	broad.mit.edu	37	9	14307404	14307404	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr9:14307404A>T	uc022bdo.1	-	1	681	c.146T>A	c.(145-147)aTg>aAg	p.M49K	NFIB_uc003zlf.3_Missense_Mutation_p.M49K|NFIB_uc003zle.3_Missense_Mutation_p.M49K|NFIB_uc022bdp.1_Missense_Mutation_p.M75K|NFIB_uc011lmo.2_Missense_Mutation_p.M49K	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	49					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATCCTTTGACATTCGCTTCTC	0.453000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									79			6		0	0	0.021553	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339497	72339497	+	RNA	SNP	T	C	C	rs390732	by1000genomes	TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:72339497T>C	uc010lal.1	-	0		c.159A>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		TCCTCAGATTTGTCCCACCAC	0.582000														57			3		0	0	0.004672	0	0
F8	2157	broad.mit.edu	37	X	154157883	154157883	+	Silent	SNP	C	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chrX:154157883C>T	uc004fmt.3	-	13	4353	c.4182G>A	c.(4180-4182)acG>acA	p.T1394T		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1394	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)	TATGACTCCTCGTAAGGCAAT	0.428000														100			24		0	0	0.016522	0	0
DECR2	26063	broad.mit.edu	37	16	457438	457438	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr16:457438T>G	uc002chb.3	+	3	321	c.215T>G	c.(214-216)cTg>cGg	p.L72R	DECR2_uc002chc.3_5'UTR|DECR2_uc002chd.3_5'UTR|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	72						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GCCAGGAAGCTGGCTGGGGCC	0.652000														77			5		0	0	0.021553	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775391	70775391	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr10:70775391C>T	uc001joy.3	+	6	1197	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	362					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CGGAAAAAAGCTGTGCAGTTT	0.413000														111			8		0	0	0.004482	0	0
SSX2IP	117178	broad.mit.edu	37	1	85121610	85121610	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:85121610G>A	uc001dki.3	-	11	1620	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	SSX2IP_uc001dkf.3_Missense_Mutation_p.L404F|SSX2IP_uc001dkh.3_Missense_Mutation_p.L432F|SSX2IP_uc010orz.2_Missense_Mutation_p.L405F|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.L405F|SSX2IP_uc001dkj.3_Missense_Mutation_p.L432F|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.L428F	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	432					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTTCTTTGAGACGTTCCTTT	0.388000														57			6		0	0	0.021553	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432757	111432757	+	Silent	SNP	C	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr3:111432757C>T	uc003dya.3	+	2	1218	c.648C>T	c.(646-648)ccC>ccT	p.P216P	PLCXD2_uc003dxz.3_Silent_p.P216P	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	216					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.P216P(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACCACTGTCCCTTCTACAAGC	0.443000														72			12		0	0	0.013537	0	0
C15orf2	23742	broad.mit.edu	37	15	24923231	24923231	+	Silent	SNP	T	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:24923231T>A	uc001ywo.3	+	0	2691	c.2217T>A	c.(2215-2217)acT>acA	p.T739T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	739					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCGGCAACACTGCCTCAGTCC	0.557000														176			18		0	0	0.008871	0	0
AGAP7	653268	broad.mit.edu	37	10	51465326	51465326	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr10:51465326T>G	uc001jio.3	-	6	1256	c.1130A>C	c.(1129-1131)aAg>aCg	p.K377T	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	377	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TAGGTGTTTCTTTTTATTGGC	0.522000														158			10		0	0	0.006214	0	0
ARAP3	64411	broad.mit.edu	37	5	141033934	141033934	+	Silent	SNP	T	C	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:141033934T>C	uc003llm.3	-	32	4296	c.4218A>G	c.(4216-4218)ccA>ccG	p.P1406P	ARAP3_uc003lll.3_Silent_p.P357P|ARAP3_uc011dbe.2_Silent_p.P1055P|ARAP3_uc003lln.3_Silent_p.P1237P	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1406					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|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|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|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						CCTCATACACTGGCTCCTCGT	0.577000														95			13		0	0	0.016723	0	0
CCT5	22948	broad.mit.edu	37	5	10261751	10261751	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:10261751T>G	uc003jeq.3	+	7	1244	c.1073T>G	c.(1072-1074)cTt>cGt	p.L358R	CCT5_uc011cmq.2_Missense_Mutation_p.L205R|CCT5_uc011cmr.2_Missense_Mutation_p.L303R|CCT5_uc011cms.2_Missense_Mutation_p.L320R|CCT5_uc011cmt.2_Missense_Mutation_p.L265R	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	358					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTTGCTGGTCTTGTACAGGAG	0.498000														294			32		0	0	0.012213	0	0
STAM	8027	broad.mit.edu	37	10	17735224	17735224	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr10:17735224G>A	uc001ipj.2	+	5	663	c.448G>A	c.(448-450)Gca>Aca	p.A150T	STAM_uc010qcf.2_Missense_Mutation_p.A39T|STAM_uc009xjw.2_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	150					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGTTAGGCTGCAGAACAAGC	0.408000														97			8		0	0	0.006214	0	0
NOA1	84273	broad.mit.edu	37	4	57842784	57842784	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr4:57842784C>A	uc003hck.3	-	0	1043	c.968G>T	c.(967-969)gGa>gTa	p.G323V	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	323							GTP binding										CTCTTCCACTCCATAGCCGGT	0.612000														118			7		0.000157383	0.000177912	0.003080	1	0
KCNC2	3747	broad.mit.edu	37	12	75436984	75436984	+	Silent	SNP	G	T	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr12:75436984G>T	uc001sxg.1	-	4	2362	c.1818C>A	c.(1816-1818)ggC>ggA	p.G606G	KCNC2_uc009zry.3_Intron|KCNC2_uc001sxe.3_Intron|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Silent_p.G551G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	606					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGCCTGCCAAGCCCGCTATGT	0.423000														69			6		8.12818e-05	9.32351e-05	0.029380	1	0
FBXO16	157574	broad.mit.edu	37	8	28321296	28321296	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr8:28321296T>G	uc003xgu.3	-	3	273	c.175A>C	c.(175-177)Aca>Cca	p.T59P	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.T46P	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	59										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AACAGGCCTGTGAGGATTCTT	0.443000														58			9		0	0	0.004482	0	0
INSRR	3645	broad.mit.edu	37	1	156816378	156816378	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:156816378delG	uc010pht.2	-	7	2042	c.1743delC	c.(1741-1743)accfs	p.T581fs	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	581	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.T581N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCCTCAGTGGTTAGCGTGA	0.607													---	70	---	---	7	---					
LYAR	55646	broad.mit.edu	37	4	4276371	4276375	+	Frame_Shift_Del	DEL	CTTCA	-	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr4:4276371_4276375delCTTCA	uc011bvy.2	-	6	694_698	c.551_555delTGAAG	c.(550-555)gtgaagfs	p.V184fs	LYAR_uc011bvx.2_Frame_Shift_Del_p.V67fs|LYAR_uc003ght.3_Frame_Shift_Del_p.V184fs	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	184	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ttttATTCTTCTTCACCTCCCCTTG	0.449													---	165	---	---	14	---					
SNX30	401548	broad.mit.edu	37	9	115567070	115567071	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr9:115567070_115567071insA	uc004bgj.4	+	1	319_320	c.171_172insA	c.(169-174)cccaacfs	p.P57fs		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	57					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATTTTGCCCAACGGTGGTAC	0.401													---	241	---	---	27	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	302	---	---	8	---					
MYH10	4628	broad.mit.edu	37	17	8452026	8452026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:8452026delT	uc002glm.3	-	9	1095	c.999delA	c.(997-999)aaafs	p.K333fs	MYH10_uc002gll.3_Frame_Shift_Del_p.K323fs|MYH10_uc010cnx.3_Frame_Shift_Del_p.K332fs|Metazoa_SRP_uc021tqb.1_5'Flank|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	323	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAAATTATCTTTGTCTTGCT	0.383													---	195	---	---	19	---					
PRPSAP1	5635	broad.mit.edu	37	17	74307703	74307703	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:74307703delT	uc010wtb.1	-	9	990	c.769delA	c.(769-771)attfs	p.I257fs	PRPSAP1_uc010wta.1_Frame_Shift_Del_p.I360fs	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	331					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCAGAAAGAATCAAACTGATA	0.468													---	89	---	---	10	---					
